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X chromosome

The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery.[4]

Human X chromosome
Human X chromosome (after G-banding)
X chromosome in human male karyogram
Features
Length (bp)154,259,566 bp
(CHM13)
No. of genes804 (CCDS)[1]
TypeAllosome
Centromere positionSubmetacentric[2]
(61.0 Mbp)[3]
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
External map viewers
EnsemblChromosome X
EntrezChromosome X
NCBIChromosome X
UCSCChromosome X
Full DNA sequences
RefSeqNC_000023 (FASTA)
GenBankCM000685 (FASTA)

Discovery edit

It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of Pyrrhocoris and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (chroma in Greek means color). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of the object and consequently named it X element,[5] which later became X chromosome after it was established that it was indeed a chromosome.[6]

The idea that the X chromosome was named after its similarity to the letter "X" is mistaken. All chromosomes normally appear as an amorphous blob under the microscope and take on a well-defined shape only during mitosis. This shape is vaguely X-shaped for all chromosomes. It is entirely coincidental that the Y chromosome, during mitosis, has two very short branches which can look merged under the microscope and appear as the descender of a Y-shape.[7]

It was first suggested that the X chromosome was involved in sex determination by Clarence Erwin McClung in 1901. After comparing his work on locusts with Henking's and others, McClung noted that only half the sperm received an X chromosome. He called this chromosome an accessory chromosome, and insisted (correctly) that it was a proper chromosome, and theorized (incorrectly) that it was the male-determining chromosome.[5]

Inheritance pattern edit

 
The number of possible ancestors on the X chromosome inheritance line at a given ancestral generation follows the Fibonacci sequence. (After Hutchison, L. "Growing the Family Tree: The Power of DNA in Reconstructing Family Relationships".[8])

Luke Hutchison noticed that a number of possible ancestors on the X chromosome inheritance line at a given ancestral generation follows the Fibonacci sequence.[8] A male individual has an X chromosome, which he received from his mother, and a Y chromosome, which he received from his father. The male counts as the "origin" of his own X chromosome ( ), and at his parents' generation, his X chromosome came from a single parent ( ). The male's mother received one X chromosome from her mother (the son's maternal grandmother), and one from her father (the son's maternal grandfather), so two grandparents contributed to the male descendant's X chromosome ( ). The maternal grandfather received his X chromosome from his mother, and the maternal grandmother received X chromosomes from both of her parents, so three great-grandparents contributed to the male descendant's X chromosome ( ). Five great-great-grandparents contributed to the male descendant's X chromosome ( ), etc. (Note that this assumes that all ancestors of a given descendant are independent, but if any genealogy is traced far enough back in time, ancestors begin to appear on multiple lines of the genealogy, until eventually, a population founder appears on all lines of the genealogy.)

Humans edit

Function edit

 
Nucleus of a female amniotic fluid cell. Top: Both X-chromosome territories are detected by FISH. Shown is a single optical section made with a confocal microscope. Bottom: Same nucleus stained with DAPI and recorded with a CCD camera. The Barr body is indicated by the arrow, it identifies the inactive X (Xi).

The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). It represents about 800 protein-coding genes compared to the Y chromosome containing about 70 genes, out of 20,000–25,000 total genes in the human genome. Each person usually has one pair of sex chromosomes in each cell. Females typically have two X chromosomes, whereas males typically have one X and one Y chromosome. Both males and females retain one of their mother's X chromosomes, and females retain their second X chromosome from their father. Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother (father's side), and one X chromosome from her mother. This inheritance pattern follows the Fibonacci numbers at a given ancestral depth.[citation needed]

Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. If the X chromosome has a genetic disease gene, it always causes illness in male patients, since men have only one X chromosome and therefore only one copy of each gene. Females, instead, may stay healthy and only be carrier of genetic illness, since they have another X chromosome and possibility to have healthy gene copy. For example, hemophilia A and B and congenital red–green color blindness run in families this way.

The X chromosome carries hundreds of genes but few, if any, of these have anything to do directly with sex determination. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in nearly all somatic cells (cells other than egg and sperm cells). This phenomenon is called X-inactivation or Lyonization, and creates a Barr body. If X-inactivation in the somatic cell meant a complete de-functionalizing of one of the X-chromosomes, it would ensure that females, like males, had only one functional copy of the X chromosome in each somatic cell. This was previously assumed to be the case. However, recent research suggests that the Barr body may be more biologically active than was previously supposed.[9]

The partial inactivation of the X-chromosome is due to repressive heterochromatin that compacts the DNA and prevents the expression of most genes. Heterochromatin compaction is regulated by Polycomb Repressive Complex 2 (PRC2).[10]

Genes edit

Number of genes edit

The following are some of the gene count estimates of human X chromosome. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[11]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 804 [1] 2016-09-08
HGNC 825 260 606 [12] 2017-05-12
Ensembl 841 639 871 [13] 2017-03-29
UniProt 839 [14] 2018-02-28
NCBI 874 494 879 [15][16][17] 2017-05-19

Gene list edit

The following is a partial list of genes on human chromosome X. For complete list, see the link in the infobox on the right.

  • AD16: encoding Alzheimer disease 16 protein
  • AIC: encoding protein AIC
  • APOO: encoding protein Apolipoprotein O
  • ARMCX6: encoding protein Armadillo repeat containing X-linked 6
  • BEX1: encoding protein Brain-expressed X-linked protein 1
  • BEX2: encoding protein Brain-expressed X-linked protein 2
  • BEX4: encoding protein Brain expressed, X-linked 4
  • CCDC120: encoding protein Coiled coil domain containing protein 120
  • CCDC22: encoding protein Coiled-coil domain containing 22
  • CD99L2: CD99 antigen-like protein 2
  • CDR1-AS: encoding protein CDR1 antisense RNA
  • CFAP47: encoding protein Cilia and flagella associated protein 47
  • CHRDL1: encoding protein Chordin-like 1
  • CMTX2 encoding protein Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)
  • CMTX3 encoding protein Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)
  • CT45A5: encoding protein Cancer/testis antigen family 45, member A5
  • CT55: encoding protein Cancer/testis antigen 55
  • CXorf36: encoding protein hypothetical protein LOC79742
  • CXorf57: encoding protein Chromosome X open reading frame 57
  • CXorf40A: Chromosome X open reading frame 40
  • CXorf49: chromosome X open reading frame 49. encoding protein
  • CXorf66: encoding protein Chromosome X Open Reading Frame 66
  • CXorf67: encoding protein Uncharacterized protein CXorf67
  • DACH2: encoding protein Dachshund homolog 2
  • EFHC2: encoding protein EF-hand domain (C-terminal) containing 2
  • ERCC6L encoding protein ERCC excision repair 6 like, spindle assembly checkpoint helicase
  • F8A1: Factor VIII intron 22 protein
  • FAM104B: encoding protein Family with sequence similarity 104 member B
  • FAM120C: encoding protein Family with sequence similarity 120C
  • FAM122B: Family with sequence similarity 122 member B
  • FAM122C: encoding protein Family with sequence similarity 122C
  • FAM127A: CAAX box protein 1
  • FAM50A: Family with sequence similarity 50 member A
  • FATE1: Fetal and adult testis-expressed transcript protein
  • FMR1-AS1: encoding a long non-coding RNA FMR1 antisense RNA 1
  • FRMPD3: encoding protein FERM and PDZ domain containing 3
  • FRMPD4: encoding protein FERM and PDZ domain containing 4
  • FUNDC1: encoding protein FUN14 domain containing 1
  • FUNDC2: FUN14 domain-containing protein 2
  • GAGE12F: encoding G antigen 12F protein
  • GAGE2A: encoding G antigen 2A protein
  • GATA1: encoding GATA1 transcription factor
  • GNL3L encoding protein G protein nucleolar 3 like
  • GPRASP2: G-protein coupled receptor-associated sorting protein 2
  • GRIPAP1: encoding protein GRIP1-associated protein 1
  • GRDX: encoding protein Graves disease, susceptibility to, X-linked
  • HDHD1A: encoding enzyme Haloacid dehalogenase-like hydrolase domain-containing protein 1A
  • HS6ST2: encoding protein Heparan sulfate 6-O-sulfotransferase 2
  • ITM2A: encoding protein Integral membrane protein 2A
  • LAS1L: encoding protein LAS1-like protein
  • LINC01420: encoding protein Nucleosome assembly protein 1 like 3
  • LOC101059915: encoding *LOC101059915 protein
  • MAGEA2: encoding protein Melanoma-associated antigen 2
  • MAGEA5: encoding protein Melanoma antigen family A, 5
  • MAGEA8: encoding protein Melanoma antigen family A, 8
  • MAGED4B: encoding protein Melanoma-associated antigen D4
  • MAGT1: encoding protein Magnesium transporter protein 1
  • MAGED4: encoding protein MAGE family member D4
  • MAP3K15: encoding protein Mitogen-activated protein kinase kinase kinase 15
  • MBNL3: encoding protein Muscleblind-like protein 3
  • MBTPS2: encoding enzyme Membrane-bound transcription factor site-2 protease
  • MCT-1: encoding protein MCTS1, re-initiation and release factor
  • MIR106A: encoding microRNA MicroRNA 106
  • MIR222: encoding microRNA MicroRNA 222
  • MIR223: encoding protein MicroRNA 223
  • MIR361: encoding microRNA MicroRNA 361
  • MIR503: encoding microRNA MicroRNA 503
  • MIR6087: encoding microRNA MicroRNA 6087
  • MIR660: encoding microRNA MicroRNA 660
  • MIRLET7F2: encoding protein MicroRNA let-7f-2
  • MORF4L2: encoding protein Mortality factor 4-like protein 2
  • MOSPD1: encoding protein Motile sperm domain containing 1
  • MOSPD2: encoding protein Motile sperm domain containing 2
  • NAP1L3: encoding protein Nucleosome assembly protein 1 like 3
  • NKRF: encoding protein NF-kappa-B-repressing factor
  • NRK: encoding enzyme Nik-related protein kinase
  • OTUD5: encoding protein OTU deubiquitinase 5
  • PASD1: encoding protein PAS domain-containing protein 1
  • PAGE1: encoding protein PAGE family member 1
  • PAGE2B: encoding PAGE family member 2B protein
  • PBDC1: encoding a protein of unestablished function
  • PCYT1B: encoding enzyme Choline-phosphate cytidylyltransferase B
  • PIN4: encoding enzyme Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4
  • PLAC1: encoding protein Placenta-specific protein 1
  • PLP2: encoding protein Proteolipid protein 2
  • PRR32: encoding protein PRR32
  • RPA4: encoding protein Replication protein A 30 kDa subunit
  • RPS6KA6: encoding protein Ribosomal protein S6 kinase, 90kDa, polypeptide 6
  • RRAGB: encoding protein Ras-related GTP-binding protein B
  • RTL3: encoding protein Retrotransposon Gag like 3
  • SFRS17A: encoding protein Splicing factor, arginine/serine-rich 17A
  • SLC38A5: encoding protein Solute carrier family 38 member 5
  • SLITRK2: encoding protein SLIT and NTRK-like protein 2
  • SMARCA1: encoding protein Probable global transcription activator SNF2L1
  • SMS: encoding enzyme Spermine synthase
  • SPANXN1: encoding protein SPANX family member N1
  • SPANXN5: encoding protein SPANX family member N5
  • SPG16: encoding protein Spastic paraplegia 16 (complicated, X-linked recessive)
  • SSR4: encoding protein Translocon-associated protein subunit delta
  • TAF7L: encoding protein TATA-box binding protein associated factor 7-like
  • TCEAL1: encoding protein Transcription elongation factor A protein-like 1
  • TCEAL4: encoding protein Transcription elongation factor A protein-like 4
  • TENT5D: encoding protein Terminal nucleotidyltransferase 5D
  • TEX11: encoding protein Testis expressed 11
  • THOC2: encoding protein THO complex subunit 2
  • TMEM29: encoding protein Protein FAM156A
  • TMEM47: encoding protein Transmembrane protein 47
  • TMLHE: encoding enzyme Trimethyllysine dioxygenase, mitochondrial
  • TNMD encoding protein Tenomodulin (also referred to as tendin, myodulin, Tnmd and TeM)
  • TRAPPC2P1 encoding protein Trafficking protein particle complex subunit 2
  • TREX2: encoding enzyme Three prime repair exonuclease 2
  • TRO: encoding protein Trophinin
  • TSPYL2: encoding protein Testis-specific Y-encoded-like protein 2
  • TTC3P1: encoding protein Tetratricopeptide repeat domain 3 pseudogene 1
  • USP51: encoding enzyme Ubiquitin carboxyl-terminal hydrolase 51
  • VSIG1: encoding protein V-set and immunoglobulin domain containing 1
  • YIPF6: encoding protein Protein YIPF6
  • ZC3H12B: encoding protein ZC3H12B
  • ZC4H2: encoding protein ZC4H2 Deficiency
  • ZCCHC18: encoding protein Zinc finger CCHC-type containing 18
  • ZFP92: encoding protein ZFP92 zinc finger protein
  • ZMYM3: encoding protein Zinc finger MYM-type protein 3
  • ZNF157: encoding protein Zinc finger protein 157
  • ZNF182 encoding protein Zinc finger protein 182
  • ZNF275: encoding protein Zinc finger protein 275
  • ZNF674: encoding protein Zinc finger protein 674

Structure edit

It is theorized by Ross et al. 2005 and Ohno 1967 that the X chromosome is at least partially derived from the autosomal (non-sex-related) genome of other mammals, evidenced from interspecies genomic sequence alignments.

The X chromosome is notably larger and has a more active euchromatin region than its Y chromosome counterpart. Further comparison of the X and Y reveal regions of homology between the two. However, the corresponding region in the Y appears far shorter and lacks regions that are conserved in the X throughout primate species, implying a genetic degeneration for Y in that region. Because males have only one X chromosome, they are more likely to have an X chromosome-related disease.

It is estimated that about 10% of the genes encoded by the X chromosome are associated with a family of "CT" genes, so named because they encode for markers found in both tumor cells (in cancer patients) as well as in the human testis (in healthy patients).[18]

Role in disease edit

Numerical abnormalities edit

Klinefelter syndrome:

  • Klinefelter syndrome is caused by the presence of one or more extra copies of the X chromosome in a male's cells.
  • Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). It is less common for affected males to have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY) in each cell. The extra genetic material may lead to tall stature, learning and reading disabilities, and other medical problems. Each extra X chromosome lowers the child's IQ by about 15 points,[19][20] which means that the average IQ in Klinefelter syndrome is in general in the normal range, although below average. When additional X and/or Y chromosomes are present in 48,XXXY, 48,XXYY, or 49,XXXXY, developmental delays and cognitive difficulties can be more severe and mild intellectual disability may be present.
  • Klinefelter syndrome can also result from an extra X chromosome in only some of the body's cells. These cases are called mosaic 46,XY/47,XXY.

Trisomy X

  • This syndrome results from an extra copy of the X chromosome in each of a female's cells. Females with trisomy X have three X chromosomes, for a total of 47 chromosomes per cell. The average IQ of females with this syndrome is 90, while the average IQ of unaffected siblings is 100.[21] Their stature on average is taller than normal females. They are fertile and their children do not inherit the condition.[22]
  • Females with more than one extra copy of the X chromosome (48, tetrasomy X or 49, pentasomy X) have been identified, but these conditions are rare.

Turner syndrome:

  • This results when each of a female's cells has one normal X chromosome and the other sex chromosome is missing or altered. The missing genetic material affects development and causes the features of the condition, including short stature and infertility.
  • About half of individuals with Turner syndrome have monosomy X (45,X), which means each cell in a woman's body has only one copy of the X chromosome instead of the usual two copies. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely missing. Some women with Turner syndrome have a chromosomal change in only some of their cells. These cases are called Turner syndrome mosaics (45,X/46,XX).

X-linked recessive disorders edit

Sex linkage was first discovered in insects, e.g., T. H. Morgan's 1910 discovery of the pattern of inheritance of the white eyes mutation in Drosophila melanogaster.[23] Such discoveries helped to explain x-linked disorders in humans, e.g., haemophilia A and B, adrenoleukodystrophy, and red-green color blindness.

Other disorders edit

XX male syndrome is a rare disorder, where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes. As a result, the XX combination after fertilization has the same effect as a XY combination, resulting in a male. However, the other genes of the X chromosome cause feminization as well.

X-linked endothelial corneal dystrophy is an extremely rare disease of cornea associated with Xq25 region. Lisch epithelial corneal dystrophy is associated with Xp22.3.

Megalocornea 1 is associated with Xq21.3-q22[medical citation needed]

Adrenoleukodystrophy, a rare and fatal disorder that is carried by the mother on the x-cell. It affects only boys between the ages of 5 and 10 and destroys the protective cell surrounding the nerves, myelin, in the brain. The female carrier hardly shows any symptoms because females have a copy of the x-cell. This disorder causes a once healthy boy to lose all abilities to walk, talk, see, hear, and even swallow. Within 2 years after diagnosis, most boys with Adrenoleukodystrophy die.

Cytogenetic band edit

 
G-banding ideogram of human X chromosome in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
 
G-banding patterns of human X chromosome in three different resolutions (400,[24] 550[25] and 850[3] Band length in this diagram is based on the ideograms from ISCN (2013).[26] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[27]
G-bands of human X chromosome in resolution 850 bphs[3]
Chr. Arm[28] Band[29] ISCN
start[30]
ISCN
stop[30]
Basepair
start
Basepair
stop
Stain[31] Density
X p 22.33 0 323 1 4,400,000 gneg
X p 22.32 323 504 4,400,001 6,100,000 gpos 50
X p 22.31 504 866 6,100,001 9,600,000 gneg
X p 22.2 866 1034 9,600,001 17,400,000 gpos 50
X p 22.13 1034 1345 17,400,001 19,200,000 gneg
X p 22.12 1345 1448 19,200,001 21,900,000 gpos 50
X p 22.11 1448 1577 21,900,001 24,900,000 gneg
X p 21.3 1577 1784 24,900,001 29,300,000 gpos 100
X p 21.2 1784 1862 29,300,001 31,500,000 gneg
X p 21.1 1862 2120 31,500,001 37,800,000 gpos 100
X p 11.4 2120 2430 37,800,001 42,500,000 gneg
X p 11.3 2430 2624 42,500,001 47,600,000 gpos 75
X p 11.23 2624 2948 47,600,001 50,100,000 gneg
X p 11.22 2948 3129 50,100,001 54,800,000 gpos 25
X p 11.21 3129 3206 54,800,001 58,100,000 gneg
X p 11.1 3206 3297 58,100,001 61,000,000 acen
X q 11.1 3297 3491 61,000,001 63,800,000 acen
X q 11.2 3491 3620 63,800,001 65,400,000 gneg
X q 12 3620 3827 65,400,001 68,500,000 gpos 50
X q 13.1 3827 4137 68,500,001 73,000,000 gneg
X q 13.2 4137 4292 73,000,001 74,700,000 gpos 50
X q 13.3 4292 4447 74,700,001 76,800,000 gneg
X q 21.1 4447 4732 76,800,001 85,400,000 gpos 100
X q 21.2 4732 4809 85,400,001 87,000,000 gneg
X q 21.31 4809 5107 87,000,001 92,700,000 gpos 100
X q 21.32 5107 5184 92,700,001 94,300,000 gneg
X q 21.33 5184 5430 94,300,001 99,100,000 gpos 75
X q 22.1 5430 5701 99,100,001 103,300,000 gneg
X q 22.2 5701 5843 103,300,001 104,500,000 gpos 50
X q 22.3 5843 6050 104,500,001 109,400,000 gneg
X q 23 6050 6322 109,400,001 117,400,000 gpos 75
X q 24 6322 6619 117,400,001 121,800,000 gneg
X q 25 6619 7059 121,800,001 129,500,000 gpos 100
X q 26.1 7059 7253 129,500,001 131,300,000 gneg
X q 26.2 7253 7395 131,300,001 134,500,000 gpos 25
X q 26.3 7395 7602 134,500,001 138,900,000 gneg
X q 27.1 7602 7808 138,900,001 141,200,000 gpos 75
X q 27.2 7808 7886 141,200,001 143,000,000 gneg
X q 27.3 7886 8145 143,000,001 148,000,000 gpos 100
X q 28 8145 8610 148,000,001 156,040,895 gneg

 

Research edit

In July 2020 scientists reported the first complete and gap-less assembly of a human X chromosome.[32][33]

See also edit

References edit

  • Earlier versions of this article contain material from the , a part of the National Institutes of Health (USA,) which, as a US government publication, is in the public domain.
  1. ^ a b "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
  2. ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  3. ^ a b c Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  4. ^ Angier, Natalie (2007-05-01). "For Motherly X Chromosome, Gender Is Only the Beginning". The New York Times. Retrieved 2007-05-01.
  5. ^ a b James Schwartz, In Pursuit of the Gene: From Darwin to DNA, pages 155-158, Harvard University Press, 2009 ISBN 0674034910
  6. ^ David Bainbridge, 'The X in Sex: How the X Chromosome Controls Our Lives, pages 3-5, Harvard University Press, 2003 ISBN 0674016211.
  7. ^ Bainbridge, pages 65-66
  8. ^ a b Hutchison, Luke (September 2004). "Growing the Family Tree: The Power of DNA in Reconstructing Family Relationships" (PDF). Proceedings of the First Symposium on Bioinformatics and Biotechnology (BIOT-04). Retrieved 2016-09-03.
  9. ^ Carrel L, Willard H (2005). "X-inactivation profile reveals extensive variability in X-linked gene expression in females". Nature. 434 (7031): 400–4. Bibcode:2005Natur.434..400C. doi:10.1038/nature03479. PMID 15772666. S2CID 4358447.
  10. ^ Veneti Z, Gkouskou KK, Eliopoulos AG (July 2017). "Polycomb Repressor Complex 2 in Genomic Instability and Cancer". Int J Mol Sci. 18 (8): 1657. doi:10.3390/ijms18081657. PMC 5578047. PMID 28758948.
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  12. ^ "Statistics & Downloads for chromosome X". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
  13. ^ "Chromosome X: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  14. ^ "Human chromosome X: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
  15. ^ "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  16. ^ "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  17. ^ "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  18. ^ Ross M, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
  19. ^ Harold Chen; Ian Krantz; Mary L Windle; Margaret M McGovern; Paul D Petry; Bruce Buehler (2013-02-22). "Klinefelter Syndrome Pathophysiology". Medscape. Retrieved 2014-07-18.
  20. ^ Visootsak J, Graham JM (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
  21. ^ Bender B, Puck M, Salbenblatt J, Robinson A (1986). Smith S (ed.). Cognitive development of children with sex chromosome abnormalities. San Diego: College Hill Press. pp. 175–201.
  22. ^ "Triple X syndrome". Genetics Home Reference. 2014-07-14. Retrieved 2014-07-18.
  23. ^ Morgan, T. H. (1910). "Sex-limited inheritance in Drosophila". Science. 32 (812): 120–122. Bibcode:1910Sci....32..120M. doi:10.1126/science.32.812.120. PMID 17759620.
  24. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  25. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  26. ^ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
  27. ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE). pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
  28. ^ "p": Short arm; "q": Long arm.
  29. ^ For cytogenetic banding nomenclature, see article locus.
  30. ^ a b These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
  31. ^ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
  32. ^ "Scientists achieve first complete assembly of human X chromosome". phys.org. Retrieved 16 August 2020.
  33. ^ Miga, Karen H.; Koren, Sergey; Rhie, Arang; Vollger, Mitchell R.; Gershman, Ariel; Bzikadze, Andrey; Brooks, Shelise; Howe, Edmund; Porubsky, David; Logsdon, Glennis A.; Schneider, Valerie A.; Potapova, Tamara; Wood, Jonathan; Chow, William; Armstrong, Joel; Fredrickson, Jeanne; Pak, Evgenia; Tigyi, Kristof; Kremitzki, Milinn; Markovic, Christopher; Maduro, Valerie; Dutra, Amalia; Bouffard, Gerard G.; Chang, Alexander M.; Hansen, Nancy F.; Wilfert, Amy B.; Thibaud-Nissen, Françoise; Schmitt, Anthony D.; Belton, Jon-Matthew; Selvaraj, Siddarth; Dennis, Megan Y.; Soto, Daniela C.; Sahasrabudhe, Ruta; Kaya, Gulhan; Quick, Josh; Loman, Nicholas J.; Holmes, Nadine; Loose, Matthew; Surti, Urvashi; Risques, Rosa ana; Lindsay, Tina A. Graves; Fulton, Robert; Hall, Ira; Paten, Benedict; Howe, Kerstin; Timp, Winston; Young, Alice; Mullikin, James C.; Pevzner, Pavel A.; Gerton, Jennifer L.; Sullivan, Beth A.; Eichler, Evan E.; Phillippy, Adam M. (14 July 2020). "Telomere-to-telomere assembly of a complete human X chromosome". Nature. 585 (7823): 79–84. Bibcode:2020Natur.585...79M. doi:10.1038/s41586-020-2547-7. ISSN 1476-4687. PMC 7484160. PMID 32663838.

External links edit

  • National Institutes of Health. . Genetics Home Reference. Archived from the original on 2007-07-08. Retrieved 2017-05-06.
  • "X chromosome". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.

chromosome, chromosomes, many, organisms, including, mammals, found, both, males, females, part, determination, system, determination, system, named, unique, properties, early, researchers, which, resulted, naming, counterpart, chromosome, next, letter, alphab. The X chromosome is one of the two sex chromosomes in many organisms including mammals and is found in both males and females It is a part of the XY sex determination system and XO sex determination system The X chromosome was named for its unique properties by early researchers which resulted in the naming of its counterpart Y chromosome for the next letter in the alphabet following its subsequent discovery 4 Human X chromosomeHuman X chromosome after G banding X chromosome in human male karyogramFeaturesLength bp 154 259 566 bp CHM13 No of genes804 CCDS 1 TypeAllosomeCentromere positionSubmetacentric 2 61 0 Mbp 3 Complete gene listsCCDSGene listHGNCGene listUniProtGene listNCBIGene listExternal map viewersEnsemblChromosome XEntrezChromosome XNCBIChromosome XUCSCChromosome XFull DNA sequencesRefSeqNC 000023 FASTA GenBankCM000685 FASTA Contents 1 Discovery 2 Inheritance pattern 3 Humans 3 1 Function 3 2 Genes 3 2 1 Number of genes 3 2 2 Gene list 3 3 Structure 3 4 Role in disease 3 4 1 Numerical abnormalities 3 4 2 X linked recessive disorders 3 4 3 Other disorders 3 5 Cytogenetic band 3 6 Research 4 See also 5 References 6 External linksDiscovery editIt was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig Henking was studying the testicles of Pyrrhocoris and noticed that one chromosome did not take part in meiosis Chromosomes are so named because of their ability to take up staining chroma in Greek means color Although the X chromosome could be stained just as well as the others Henking was unsure whether it was a different class of the object and consequently named it X element 5 which later became X chromosome after it was established that it was indeed a chromosome 6 The idea that the X chromosome was named after its similarity to the letter X is mistaken All chromosomes normally appear as an amorphous blob under the microscope and take on a well defined shape only during mitosis This shape is vaguely X shaped for all chromosomes It is entirely coincidental that the Y chromosome during mitosis has two very short branches which can look merged under the microscope and appear as the descender of a Y shape 7 It was first suggested that the X chromosome was involved in sex determination by Clarence Erwin McClung in 1901 After comparing his work on locusts with Henking s and others McClung noted that only half the sperm received an X chromosome He called this chromosome an accessory chromosome and insisted correctly that it was a proper chromosome and theorized incorrectly that it was the male determining chromosome 5 Inheritance pattern editThis section relies largely or entirely upon a single source Relevant discussion may be found on the talk page Please help improve this article by introducing citations to additional sources at this section August 2021 Learn how and when to remove this template message nbsp The number of possible ancestors on the X chromosome inheritance line at a given ancestral generation follows the Fibonacci sequence After Hutchison L Growing the Family Tree The Power of DNA in Reconstructing Family Relationships 8 Luke Hutchison noticed that a number of possible ancestors on the X chromosome inheritance line at a given ancestral generation follows the Fibonacci sequence 8 A male individual has an X chromosome which he received from his mother and a Y chromosome which he received from his father The male counts as the origin of his own X chromosome F 1 1 displaystyle F 1 1 nbsp and at his parents generation his X chromosome came from a single parent F 2 1 displaystyle F 2 1 nbsp The male s mother received one X chromosome from her mother the son s maternal grandmother and one from her father the son s maternal grandfather so two grandparents contributed to the male descendant s X chromosome F 3 2 displaystyle F 3 2 nbsp The maternal grandfather received his X chromosome from his mother and the maternal grandmother received X chromosomes from both of her parents so three great grandparents contributed to the male descendant s X chromosome F 4 3 displaystyle F 4 3 nbsp Five great great grandparents contributed to the male descendant s X chromosome F 5 5 displaystyle F 5 5 nbsp etc Note that this assumes that all ancestors of a given descendant are independent but if any genealogy is traced far enough back in time ancestors begin to appear on multiple lines of the genealogy until eventually a population founder appears on all lines of the genealogy Humans editFunction edit nbsp Nucleus of a female amniotic fluid cell Top Both X chromosome territories are detected by FISH Shown is a single optical section made with a confocal microscope Bottom Same nucleus stained with DAPI and recorded with a CCD camera The Barr body is indicated by the arrow it identifies the inactive X Xi The X chromosome in humans spans more than 153 million base pairs the building material of DNA It represents about 800 protein coding genes compared to the Y chromosome containing about 70 genes out of 20 000 25 000 total genes in the human genome Each person usually has one pair of sex chromosomes in each cell Females typically have two X chromosomes whereas males typically have one X and one Y chromosome Both males and females retain one of their mother s X chromosomes and females retain their second X chromosome from their father Since the father retains his X chromosome from his mother a human female has one X chromosome from her paternal grandmother father s side and one X chromosome from her mother This inheritance pattern follows the Fibonacci numbers at a given ancestral depth citation needed Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked If the X chromosome has a genetic disease gene it always causes illness in male patients since men have only one X chromosome and therefore only one copy of each gene Females instead may stay healthy and only be carrier of genetic illness since they have another X chromosome and possibility to have healthy gene copy For example hemophilia A and B and congenital red green color blindness run in families this way The X chromosome carries hundreds of genes but few if any of these have anything to do directly with sex determination Early in embryonic development in females one of the two X chromosomes is permanently inactivated in nearly all somatic cells cells other than egg and sperm cells This phenomenon is called X inactivation or Lyonization and creates a Barr body If X inactivation in the somatic cell meant a complete de functionalizing of one of the X chromosomes it would ensure that females like males had only one functional copy of the X chromosome in each somatic cell This was previously assumed to be the case However recent research suggests that the Barr body may be more biologically active than was previously supposed 9 The partial inactivation of the X chromosome is due to repressive heterochromatin that compacts the DNA and prevents the expression of most genes Heterochromatin compaction is regulated by Polycomb Repressive Complex 2 PRC2 10 Genes edit Number of genes edit The following are some of the gene count estimates of human X chromosome Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies for technical details see gene prediction Among various projects the collaborative consensus coding sequence project CCDS takes an extremely conservative strategy So CCDS s gene number prediction represents a lower bound on the total number of human protein coding genes 11 Estimated by Protein coding genes Non coding RNA genes Pseudogenes Source Release dateCCDS 804 1 2016 09 08HGNC 825 260 606 12 2017 05 12Ensembl 841 639 871 13 2017 03 29UniProt 839 14 2018 02 28NCBI 874 494 879 15 16 17 2017 05 19Gene list edit See also Category Genes on human chromosome X The following is a partial list of genes on human chromosome X For complete list see the link in the infobox on the right AD16 encoding Alzheimer disease 16 protein AIC encoding protein AIC APOO encoding protein Apolipoprotein O ARMCX6 encoding protein Armadillo repeat containing X linked 6 BEX1 encoding protein Brain expressed X linked protein 1 BEX2 encoding protein Brain expressed X linked protein 2 BEX4 encoding protein Brain expressed X linked 4 CCDC120 encoding protein Coiled coil domain containing protein 120 CCDC22 encoding protein Coiled coil domain containing 22 CD99L2 CD99 antigen like protein 2 CDR1 AS encoding protein CDR1 antisense RNA CFAP47 encoding protein Cilia and flagella associated protein 47 CHRDL1 encoding protein Chordin like 1 CMTX2 encoding protein Charcot Marie Tooth neuropathy X linked 2 recessive CMTX3 encoding protein Charcot Marie Tooth neuropathy X linked 3 dominant CT45A5 encoding protein Cancer testis antigen family 45 member A5 CT55 encoding protein Cancer testis antigen 55 CXorf36 encoding protein hypothetical protein LOC79742 CXorf57 encoding protein Chromosome X open reading frame 57 CXorf40A Chromosome X open reading frame 40 CXorf49 chromosome X open reading frame 49 encoding protein CXorf66 encoding protein Chromosome X Open Reading Frame 66 CXorf67 encoding protein Uncharacterized protein CXorf67 DACH2 encoding protein Dachshund homolog 2 EFHC2 encoding protein EF hand domain C terminal containing 2 ERCC6L encoding protein ERCC excision repair 6 like spindle assembly checkpoint helicase F8A1 Factor VIII intron 22 protein FAM104B encoding protein Family with sequence similarity 104 member B FAM120C encoding protein Family with sequence similarity 120C FAM122B Family with sequence similarity 122 member B FAM122C encoding protein Family with sequence similarity 122C FAM127A CAAX box protein 1 FAM50A Family with sequence similarity 50 member A FATE1 Fetal and adult testis expressed transcript protein FMR1 AS1 encoding a long non coding RNA FMR1 antisense RNA 1 FRMPD3 encoding protein FERM and PDZ domain containing 3 FRMPD4 encoding protein FERM and PDZ domain containing 4 FUNDC1 encoding protein FUN14 domain containing 1 FUNDC2 FUN14 domain containing protein 2 GAGE12F encoding G antigen 12F protein GAGE2A encoding G antigen 2A protein GATA1 encoding GATA1 transcription factor GNL3L encoding protein G protein nucleolar 3 like GPRASP2 G protein coupled receptor associated sorting protein 2 GRIPAP1 encoding protein GRIP1 associated protein 1 GRDX encoding protein Graves disease susceptibility to X linked HDHD1A encoding enzyme Haloacid dehalogenase like hydrolase domain containing protein 1A HS6ST2 encoding protein Heparan sulfate 6 O sulfotransferase 2 ITM2A encoding protein Integral membrane protein 2A LAS1L encoding protein LAS1 like protein LINC01420 encoding protein Nucleosome assembly protein 1 like 3 LOC101059915 encoding LOC101059915 protein MAGEA2 encoding protein Melanoma associated antigen 2 MAGEA5 encoding protein Melanoma antigen family A 5 MAGEA8 encoding protein Melanoma antigen family A 8 MAGED4B encoding protein Melanoma associated antigen D4 MAGT1 encoding protein Magnesium transporter protein 1 MAGED4 encoding protein MAGE family member D4 MAP3K15 encoding protein Mitogen activated protein kinase kinase kinase 15 MBNL3 encoding protein Muscleblind like protein 3 MBTPS2 encoding enzyme Membrane bound transcription factor site 2 protease MCT 1 encoding protein MCTS1 re initiation and release factor MIR106A encoding microRNA MicroRNA 106 MIR222 encoding microRNA MicroRNA 222 MIR223 encoding protein MicroRNA 223 MIR361 encoding microRNA MicroRNA 361 MIR503 encoding microRNA MicroRNA 503 MIR6087 encoding microRNA MicroRNA 6087 MIR660 encoding microRNA MicroRNA 660 MIRLET7F2 encoding protein MicroRNA let 7f 2 MORF4L2 encoding protein Mortality factor 4 like protein 2 MOSPD1 encoding protein Motile sperm domain containing 1 MOSPD2 encoding protein Motile sperm domain containing 2 NAP1L3 encoding protein Nucleosome assembly protein 1 like 3 NKRF encoding protein NF kappa B repressing factor NRK encoding enzyme Nik related protein kinase OTUD5 encoding protein OTU deubiquitinase 5 PASD1 encoding protein PAS domain containing protein 1 PAGE1 encoding protein PAGE family member 1 PAGE2B encoding PAGE family member 2B protein PBDC1 encoding a protein of unestablished function PCYT1B encoding enzyme Choline phosphate cytidylyltransferase B PIN4 encoding enzyme Peptidyl prolyl cis trans isomerase NIMA interacting 4 PLAC1 encoding protein Placenta specific protein 1 PLP2 encoding protein Proteolipid protein 2 PRR32 encoding protein PRR32 RPA4 encoding protein Replication protein A 30 kDa subunit RPS6KA6 encoding protein Ribosomal protein S6 kinase 90kDa polypeptide 6 RRAGB encoding protein Ras related GTP binding protein B RTL3 encoding protein Retrotransposon Gag like 3 SFRS17A encoding protein Splicing factor arginine serine rich 17A SLC38A5 encoding protein Solute carrier family 38 member 5 SLITRK2 encoding protein SLIT and NTRK like protein 2 SMARCA1 encoding protein Probable global transcription activator SNF2L1 SMS encoding enzyme Spermine synthase SPANXN1 encoding protein SPANX family member N1 SPANXN5 encoding protein SPANX family member N5 SPG16 encoding protein Spastic paraplegia 16 complicated X linked recessive SSR4 encoding protein Translocon associated protein subunit delta TAF7L encoding protein TATA box binding protein associated factor 7 like TCEAL1 encoding protein Transcription elongation factor A protein like 1 TCEAL4 encoding protein Transcription elongation factor A protein like 4 TENT5D encoding protein Terminal nucleotidyltransferase 5D TEX11 encoding protein Testis expressed 11 THOC2 encoding protein THO complex subunit 2 TMEM29 encoding protein Protein FAM156A TMEM47 encoding protein Transmembrane protein 47 TMLHE encoding enzyme Trimethyllysine dioxygenase mitochondrial TNMD encoding protein Tenomodulin also referred to as tendin myodulin Tnmd and TeM TRAPPC2P1 encoding protein Trafficking protein particle complex subunit 2 TREX2 encoding enzyme Three prime repair exonuclease 2 TRO encoding protein Trophinin TSPYL2 encoding protein Testis specific Y encoded like protein 2 TTC3P1 encoding protein Tetratricopeptide repeat domain 3 pseudogene 1 USP51 encoding enzyme Ubiquitin carboxyl terminal hydrolase 51 VSIG1 encoding protein V set and immunoglobulin domain containing 1 YIPF6 encoding protein Protein YIPF6 ZC3H12B encoding protein ZC3H12B ZC4H2 encoding protein ZC4H2 Deficiency ZCCHC18 encoding protein Zinc finger CCHC type containing 18 ZFP92 encoding protein ZFP92 zinc finger protein ZMYM3 encoding protein Zinc finger MYM type protein 3 ZNF157 encoding protein Zinc finger protein 157 ZNF182 encoding protein Zinc finger protein 182 ZNF275 encoding protein Zinc finger protein 275 ZNF674 encoding protein Zinc finger protein 674 Structure edit It is theorized by Ross et al 2005 and Ohno 1967 that the X chromosome is at least partially derived from the autosomal non sex related genome of other mammals evidenced from interspecies genomic sequence alignments The X chromosome is notably larger and has a more active euchromatin region than its Y chromosome counterpart Further comparison of the X and Y reveal regions of homology between the two However the corresponding region in the Y appears far shorter and lacks regions that are conserved in the X throughout primate species implying a genetic degeneration for Y in that region Because males have only one X chromosome they are more likely to have an X chromosome related disease It is estimated that about 10 of the genes encoded by the X chromosome are associated with a family of CT genes so named because they encode for markers found in both tumor cells in cancer patients as well as in the human testis in healthy patients 18 Role in disease edit Numerical abnormalities edit Klinefelter syndrome Klinefelter syndrome is caused by the presence of one or more extra copies of the X chromosome in a male s cells Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell for a total of two X chromosomes and one Y chromosome 47 XXY It is less common for affected males to have two or three extra X chromosomes 48 XXXY or 49 XXXXY or extra copies of both the X and Y chromosomes 48 XXYY in each cell The extra genetic material may lead to tall stature learning and reading disabilities and other medical problems Each extra X chromosome lowers the child s IQ by about 15 points 19 20 which means that the average IQ in Klinefelter syndrome is in general in the normal range although below average When additional X and or Y chromosomes are present in 48 XXXY 48 XXYY or 49 XXXXY developmental delays and cognitive difficulties can be more severe and mild intellectual disability may be present Klinefelter syndrome can also result from an extra X chromosome in only some of the body s cells These cases are called mosaic 46 XY 47 XXY Trisomy X This syndrome results from an extra copy of the X chromosome in each of a female s cells Females with trisomy X have three X chromosomes for a total of 47 chromosomes per cell The average IQ of females with this syndrome is 90 while the average IQ of unaffected siblings is 100 21 Their stature on average is taller than normal females They are fertile and their children do not inherit the condition 22 Females with more than one extra copy of the X chromosome 48 tetrasomy X or 49 pentasomy X have been identified but these conditions are rare Turner syndrome This results when each of a female s cells has one normal X chromosome and the other sex chromosome is missing or altered The missing genetic material affects development and causes the features of the condition including short stature and infertility About half of individuals with Turner syndrome have monosomy X 45 X which means each cell in a woman s body has only one copy of the X chromosome instead of the usual two copies Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely missing Some women with Turner syndrome have a chromosomal change in only some of their cells These cases are called Turner syndrome mosaics 45 X 46 XX X linked recessive disorders edit Sex linkage was first discovered in insects e g T H Morgan s 1910 discovery of the pattern of inheritance of the white eyes mutation in Drosophila melanogaster 23 Such discoveries helped to explain x linked disorders in humans e g haemophilia A and B adrenoleukodystrophy and red green color blindness Other disorders edit Further information X linked recessive and X linked dominant XX male syndrome is a rare disorder where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes As a result the XX combination after fertilization has the same effect as a XY combination resulting in a male However the other genes of the X chromosome cause feminization as well X linked endothelial corneal dystrophy is an extremely rare disease of cornea associated with Xq25 region Lisch epithelial corneal dystrophy is associated with Xp22 3 Megalocornea 1 is associated with Xq21 3 q22 medical citation needed Adrenoleukodystrophy a rare and fatal disorder that is carried by the mother on the x cell It affects only boys between the ages of 5 and 10 and destroys the protective cell surrounding the nerves myelin in the brain The female carrier hardly shows any symptoms because females have a copy of the x cell This disorder causes a once healthy boy to lose all abilities to walk talk see hear and even swallow Within 2 years after diagnosis most boys with Adrenoleukodystrophy die Cytogenetic band edit nbsp G banding ideogram of human X chromosome in resolution 850 bphs Band length in this diagram is proportional to base pair length This type of ideogram is generally used in genome browsers e g Ensembl UCSC Genome Browser nbsp G banding patterns of human X chromosome in three different resolutions 400 24 550 25 and 850 3 Band length in this diagram is based on the ideograms from ISCN 2013 26 This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process 27 G bands of human X chromosome in resolution 850 bphs 3 Chr Arm 28 Band 29 ISCNstart 30 ISCNstop 30 Basepairstart Basepairstop Stain 31 DensityX p 22 33 0 323 1 4 400 000 gnegX p 22 32 323 504 4 400 001 6 100 000 gpos 50X p 22 31 504 866 6 100 001 9 600 000 gnegX p 22 2 866 1034 9 600 001 17 400 000 gpos 50X p 22 13 1034 1345 17 400 001 19 200 000 gnegX p 22 12 1345 1448 19 200 001 21 900 000 gpos 50X p 22 11 1448 1577 21 900 001 24 900 000 gnegX p 21 3 1577 1784 24 900 001 29 300 000 gpos 100X p 21 2 1784 1862 29 300 001 31 500 000 gnegX p 21 1 1862 2120 31 500 001 37 800 000 gpos 100X p 11 4 2120 2430 37 800 001 42 500 000 gnegX p 11 3 2430 2624 42 500 001 47 600 000 gpos 75X p 11 23 2624 2948 47 600 001 50 100 000 gnegX p 11 22 2948 3129 50 100 001 54 800 000 gpos 25X p 11 21 3129 3206 54 800 001 58 100 000 gnegX p 11 1 3206 3297 58 100 001 61 000 000 acenX q 11 1 3297 3491 61 000 001 63 800 000 acenX q 11 2 3491 3620 63 800 001 65 400 000 gnegX q 12 3620 3827 65 400 001 68 500 000 gpos 50X q 13 1 3827 4137 68 500 001 73 000 000 gnegX q 13 2 4137 4292 73 000 001 74 700 000 gpos 50X q 13 3 4292 4447 74 700 001 76 800 000 gnegX q 21 1 4447 4732 76 800 001 85 400 000 gpos 100X q 21 2 4732 4809 85 400 001 87 000 000 gnegX q 21 31 4809 5107 87 000 001 92 700 000 gpos 100X q 21 32 5107 5184 92 700 001 94 300 000 gnegX q 21 33 5184 5430 94 300 001 99 100 000 gpos 75X q 22 1 5430 5701 99 100 001 103 300 000 gnegX q 22 2 5701 5843 103 300 001 104 500 000 gpos 50X q 22 3 5843 6050 104 500 001 109 400 000 gnegX q 23 6050 6322 109 400 001 117 400 000 gpos 75X q 24 6322 6619 117 400 001 121 800 000 gnegX q 25 6619 7059 121 800 001 129 500 000 gpos 100X q 26 1 7059 7253 129 500 001 131 300 000 gnegX q 26 2 7253 7395 131 300 001 134 500 000 gpos 25X q 26 3 7395 7602 134 500 001 138 900 000 gnegX q 27 1 7602 7808 138 900 001 141 200 000 gpos 75X q 27 2 7808 7886 141 200 001 143 000 000 gnegX q 27 3 7886 8145 143 000 001 148 000 000 gpos 100X q 28 8145 8610 148 000 001 156 040 895 gneg nbsp Research edit In July 2020 scientists reported the first complete and gap less assembly of a human X chromosome 32 33 See also editList of X STR markers Sex linkage X inactivation Pseudoautosomal region Y chromosomeReferences editEarlier versions of this article contain material from the National Library of Medicine a part of the National Institutes of Health USA which as a US government publication is in the public domain a b Search results X CHR AND Homo sapiens Organism AND has ccds Properties AND alive prop Gene NCBI CCDS Release 20 for Homo sapiens 2016 09 08 Retrieved 2017 05 28 Tom Strachan Andrew Read 2 April 2010 Human Molecular Genetics Garland Science p 45 ISBN 978 1 136 84407 2 a b c Genome Decoration Page NCBI Ideogram data for Homo sapience 850 bphs Assembly GRCh38 p3 Last update 2014 06 03 Retrieved 2017 04 26 Angier Natalie 2007 05 01 For Motherly X Chromosome Gender Is Only the Beginning The New York Times Retrieved 2007 05 01 a b James Schwartz In Pursuit of the Gene From Darwin to DNA pages 155 158 Harvard University Press 2009 ISBN 0674034910 David Bainbridge The X in Sex How the X Chromosome Controls Our Lives pages 3 5 Harvard University Press 2003 ISBN 0674016211 Bainbridge pages 65 66 a b Hutchison Luke September 2004 Growing the Family Tree The Power of DNA in Reconstructing Family Relationships PDF Proceedings of the First Symposium on Bioinformatics and Biotechnology BIOT 04 Retrieved 2016 09 03 Carrel L Willard H 2005 X inactivation profile reveals extensive variability in X linked gene expression in females Nature 434 7031 400 4 Bibcode 2005Natur 434 400C doi 10 1038 nature03479 PMID 15772666 S2CID 4358447 Veneti Z Gkouskou KK Eliopoulos AG July 2017 Polycomb Repressor Complex 2 in Genomic Instability and Cancer Int J Mol Sci 18 8 1657 doi 10 3390 ijms18081657 PMC 5578047 PMID 28758948 Pertea M Salzberg SL 2010 Between a chicken and a grape estimating the number of human genes Genome Biol 11 5 206 doi 10 1186 gb 2010 11 5 206 PMC 2898077 PMID 20441615 Statistics amp Downloads for chromosome X HUGO Gene Nomenclature Committee 2017 05 12 Retrieved 2017 05 19 Chromosome X Chromosome summary Homo sapiens Ensembl Release 88 2017 03 29 Retrieved 2017 05 19 Human chromosome X entries gene names and cross references to MIM UniProt 2018 02 28 Retrieved 2018 03 16 Search results X CHR AND Homo sapiens Organism AND genetype protein coding Properties AND alive prop Gene NCBI 2017 05 19 Retrieved 2017 05 20 Search results X CHR AND Homo sapiens Organism AND genetype miscrna Properties OR genetype ncrna Properties OR genetype rrna Properties OR genetype trna Properties OR genetype scrna Properties OR genetype snrna Properties OR genetype snorna Properties NOT genetype protein coding Properties AND alive prop Gene NCBI 2017 05 19 Retrieved 2017 05 20 Search results X CHR AND Homo sapiens Organism AND genetype pseudo Properties AND alive prop Gene NCBI 2017 05 19 Retrieved 2017 05 20 Ross M et al 2005 The DNA sequence of the human X chromosome Nature 434 7031 325 37 Bibcode 2005Natur 434 325R doi 10 1038 nature03440 PMC 2665286 PMID 15772651 Harold Chen Ian Krantz Mary L Windle Margaret M McGovern Paul D Petry Bruce Buehler 2013 02 22 Klinefelter Syndrome Pathophysiology Medscape Retrieved 2014 07 18 Visootsak J Graham JM 2006 Klinefelter syndrome and other sex chromosomal aneuploidies Orphanet J Rare Dis 1 42 doi 10 1186 1750 1172 1 42 PMC 1634840 PMID 17062147 Bender B Puck M Salbenblatt J Robinson A 1986 Smith S ed Cognitive development of children with sex chromosome abnormalities San Diego College Hill Press pp 175 201 Triple X syndrome Genetics Home Reference 2014 07 14 Retrieved 2014 07 18 Morgan T H 1910 Sex limited inheritance in Drosophila Science 32 812 120 122 Bibcode 1910Sci 32 120M doi 10 1126 science 32 812 120 PMID 17759620 Genome Decoration Page NCBI Ideogram data for Homo sapience 400 bphs Assembly GRCh38 p3 Last update 2014 03 04 Retrieved 2017 04 26 Genome Decoration Page NCBI Ideogram data for Homo sapience 550 bphs Assembly GRCh38 p3 Last update 2015 08 11 Retrieved 2017 04 26 International Standing Committee on Human Cytogenetic Nomenclature 2013 ISCN 2013 An International System for Human Cytogenetic Nomenclature 2013 Karger Medical and Scientific Publishers ISBN 978 3 318 02253 7 Sethakulvichai W Manitpornsut S Wiboonrat M Lilakiatsakun W Assawamakin A Tongsima S 2012 Estimation of band level resolutions of human chromosome images 2012 Ninth International Conference on Computer Science and Software Engineering JCSSE pp 276 282 doi 10 1109 JCSSE 2012 6261965 ISBN 978 1 4673 1921 8 S2CID 16666470 p Short arm q Long arm For cytogenetic banding nomenclature see article locus a b These values ISCN start stop are based on the length of bands ideograms from the ISCN book An International System for Human Cytogenetic Nomenclature 2013 Arbitrary unit gpos Region which is positively stained by G banding generally AT rich and gene poor gneg Region which is negatively stained by G banding generally CG rich and gene rich acen Centromere var Variable region stalk Stalk Scientists achieve first complete assembly of human X chromosome phys org Retrieved 16 August 2020 Miga Karen H Koren Sergey Rhie Arang Vollger Mitchell R Gershman Ariel Bzikadze Andrey Brooks Shelise Howe Edmund Porubsky David Logsdon Glennis A Schneider Valerie A Potapova Tamara Wood Jonathan Chow William Armstrong Joel Fredrickson Jeanne Pak Evgenia Tigyi Kristof Kremitzki Milinn Markovic Christopher Maduro Valerie Dutra Amalia Bouffard Gerard G Chang Alexander M Hansen Nancy F Wilfert Amy B Thibaud Nissen Francoise Schmitt Anthony D Belton Jon Matthew Selvaraj Siddarth Dennis Megan Y Soto Daniela C Sahasrabudhe Ruta Kaya Gulhan Quick Josh Loman Nicholas J Holmes Nadine Loose Matthew Surti Urvashi Risques Rosa ana Lindsay Tina A Graves Fulton Robert Hall Ira Paten Benedict Howe Kerstin Timp Winston Young Alice Mullikin James C Pevzner Pavel A Gerton Jennifer L Sullivan Beth A Eichler Evan E Phillippy Adam M 14 July 2020 Telomere to telomere assembly of a complete human X chromosome Nature 585 7823 79 84 Bibcode 2020Natur 585 79M doi 10 1038 s41586 020 2547 7 ISSN 1476 4687 PMC 7484160 PMID 32663838 External links edit nbsp Wikimedia Commons has media related to X chromosomes National Institutes of Health X chromosome Genetics Home Reference Archived from the original on 2007 07 08 Retrieved 2017 05 06 X chromosome Human Genome Project Information Archive 1990 2003 Retrieved 2017 05 06 Retrieved from https en wikipedia org w index php title X chromosome amp oldid 1193891404, wikipedia, wiki, book, books, library,

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