This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer.[7]
During developmentedit
HOX B6 gene is only expressed in erythoid progenitor cells, which are the precursor to red blood cells used for transport of oxygen and carbon dioxide throughout the body. During development, the formation of the HOX gene factor happens in the first stages of fetal development, namely soon after the establishment of the mesoderm, which is the “middle layer” of the future embryo. However, HOX B6 is only expressed once the undifferentiated stem cells of the embryo distinguish themselves into the erythpoietic phase. The research has shown that HOX B6 is not expressed in hematopoietic stem cells located in the red bone marrow, which are the precursor cells to all types of blood cells, or primordial germ cells (PGCs), the precursor to cells passed on in each generation.[8] Since it is a transcriptional factor, HOX B6 regulates erythpoigenesis (red blood cell formation) using mRNA as the basis for certain protein productions. The specific gene factor for erytopoigenesis has relatively been unobserved in the scientific community, and no known diseases have been associated with a defect HOX B6 gene. However, it has been shown in correlation with major skeletal deformations.[9]
HOXB6 is a structural protein that has been shown to influence the growth and differentiation of the different blood lineages. This gene has also been shown to encourage the growth of granulocytes and monocytes, but at the cost of other blood cells. HOXB6 has the ability to cause the indefinite proliferation of murine marrow cells, as well as expand hematopoietic stem cells. When expressed abnormally, HOXB6 displays many characteristics of a potent oncoprotein. An oncoprotein can cause the transformation of a normal cell into a tumor cell. Overexpression of HOXB6, along with the addition of MEIS1 protein, has been implicated in the development of acute myeloid leukemia (AML). Acute myeloid leukemia is a cancer of the blood cells, specifically the leukocytes. The chromosomal irregularity most frequently seen in HOXB6 AML is a reappearing interstitial deletion of chromosome 2. Fundamental HOXB6 expression stops myeloid differentiation and debilitates erythropoiesis, megakaryopoiesis, and lymphopoiesis.[10]
^Zimmermann F, Rich IN (Apr 1997). "Mammalian homeobox B6 expression can be correlated with erythropoietin production sites and erythropoiesis during development, but not with hematopoietic or nonhematopoietic stem cell populations". Blood. 89 (8): 2723–35. doi:10.1182/blood.V89.8.2723. PMID 9108390.
^Rancourt DE, Tsuzuki T, Capecchi MR (Jan 1995). "Genetic interaction between hoxb-5 and hoxb-6 is revealed by nonallelic noncomplementation". Genes & Development. 9 (1): 108–22. doi:10.1101/gad.9.1.108. PMID 7828847.
^Fischbach NA, Rozenfeld S, Shen W, Fong S, Chrobak D, Ginzinger D, Kogan SC, Radhakrishnan A, Le Beau MM, Largman C, Lawrence HJ (2005). "HOXB6 overexpression in murine bone marrow immortalizes a myelomonocytic precursor in vitro and causes hematopoietic stem cell expansion and acute myeloid leukemia in vivo". Blood. 105 (4): 1456–66. doi:10.1182/blood-2004-04-1583. PMID 15522959.
Further readingedit
Kaur S, Singh G, Stock JL, Schreiner CM, Kier AB, Yager KL, Mucenski ML, Scott WJ, Potter SS (Dec 1992). "Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities". The Journal of Experimental Zoology. 264 (3): 323–36. doi:10.1002/jez.1402640311. PMID 1358998.
Shen WF, Detmer K, Simonitch-Eason TA, Lawrence HJ, Largman C (Feb 1991). "Alternative splicing of the HOX 2.2 homeobox gene in human hematopoietic cells and murine embryonic and adult tissues". Nucleic Acids Research. 19 (3): 539–45. doi:10.1093/nar/19.3.539. PMC333645. PMID 1672751.
Peverali FA, D'Esposito M, Acampora D, Bunone G, Negri M, Faiella A, Stornaiuolo A, Pannese M, Migliaccio E, Simeone A (Oct 1990). "Expression of HOX homeogenes in human neuroblastoma cell culture lines". Differentiation; Research in Biological Diversity. 45 (1): 61–9. doi:10.1111/j.1432-0436.1990.tb00458.x. PMID 1981366.
Giampaolo A, Acampora D, Zappavigna V, Pannese M, D'Esposito M, Carè A, Faiella A, Stornaiuolo A, Russo G, Simeone A (Jun 1989). "Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system". Differentiation; Research in Biological Diversity. 40 (3): 191–7. doi:10.1111/j.1432-0436.1989.tb00598.x. PMID 2570724.
Shen WF, Largman C, Lowney P, Corral JC, Detmer K, Hauser CA, Simonitch TA, Hack FM, Lawrence HJ (Nov 1989). "Lineage-restricted expression of homeobox-containing genes in human hematopoietic cell lines". Proceedings of the National Academy of Sciences of the United States of America. 86 (21): 8536–40. Bibcode:1989PNAS...86.8536S. doi:10.1073/pnas.86.21.8536. PMC298317. PMID 2573064.
Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC335308. PMID 2574852.
Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID 2576652.
Murphy PD, Ferguson-Smith AC, Miki T, Feinberg AA, Ruddle FH, Kidd KK (Aug 1987). "A moderately frequent RFLP identified by both SacI and BanII with a probe from the HOX2 locus in man (17q11-17q22)". Nucleic Acids Research. 15 (15): 6311. doi:10.1093/nar/15.15.6311. PMC306101. PMID 2888083.
Levine M, Rubin GM, Tjian R (Oct 1984). "Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila". Cell. 38 (3): 667–73. doi:10.1016/0092-8674(84)90261-7. PMID 6091895. S2CID 28848659.
Chang CP, Shen WF, Rozenfeld S, Lawrence HJ, Largman C, Cleary ML (Mar 1995). "Pbx proteins display hexapeptide-dependent cooperative DNA binding with a subset of Hox proteins". Genes & Development. 9 (6): 663–74. doi:10.1101/gad.9.6.663. PMID 7729685.
Castronovo V, Kusaka M, Chariot A, Gielen J, Sobel M (Jan 1994). "Homeobox genes: potential candidates for the transcriptional control of the transformed and invasive phenotype". Biochemical Pharmacology. 47 (1): 137–43. doi:10.1016/0006-2952(94)90447-2. PMID 7906121.
Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, Robertson N, Clayton D, Goodfellow PN, Compston A (Aug 1996). "A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22". Nature Genetics. 13 (4): 464–8. doi:10.1038/ng0896-464. PMID 8696343. S2CID 20543659.
Zimmermann F, Rich IN (Apr 1997). "Mammalian homeobox B6 expression can be correlated with erythropoietin production sites and erythropoiesis during development, but not with hematopoietic or nonhematopoietic stem cell populations". Blood. 89 (8): 2723–35. doi:10.1182/blood.V89.8.2723. PMID 9108390.
Vider BZ, Zimber A, Hirsch D, Estlein D, Chastre E, Prevot S, Gespach C, Yaniv A, Gazit A (Mar 1997). "Human colorectal carcinogenesis is associated with deregulation of homeobox gene expression". Biochemical and Biophysical Research Communications. 232 (3): 742–8. doi:10.1006/bbrc.1997.6364. PMID 9126347.
Ohnishi K, Tobita T, Sinjo K, Takeshita A, Ohno R (Nov 1998). "Modulation of homeobox B6 and B9 genes expression in human leukemia cell lines during myelomonocytic differentiation". Leukemia & Lymphoma. 31 (5–6): 599–608. doi:10.3109/10428199809057620. PMID 9922051.
Fienberg AA, Nordstedt C, Belting HG, Czernik AJ, Nairn AC, Gandy S, Greengard P, Ruddle FH (Apr 1999). "Phylogenetically conserved CK-II phosphorylation site of the murine homeodomain protein Hoxb-6". The Journal of Experimental Zoology. 285 (1): 76–84. doi:10.1002/(SICI)1097-010X(19990415)285:1<76::AID-JEZ9>3.0.CO;2-K. PMID 10327653.
Vider BZ, Zimber A, Chastre E, Gespach C, Halperin M, Mashiah P, Yaniv A, Gazit A (Jun 2000). "Deregulated expression of homeobox-containing genes, HOXB6, B8, C8, C9, and Cdx-1, in human colon cancer cell lines". Biochemical and Biophysical Research Communications. 272 (2): 513–8. doi:10.1006/bbrc.2000.2804. PMID 10833444.
Overview of all the structural information available in the PDB for UniProt: Q24645 (Drosophila subobscura Homeotic protein antennapedia) at the PDBe-KB.
hoxb6, homeobox, protein, protein, that, humans, encoded, gene, identifiersaliases, hox2, hox2b, homeobox, b6external, idsomim, 142961, 96187, homologene, 7366, genecards, gene, location, human, chromosome, human, band17q21, 32start48, end48, gene, location, m. Homeobox protein Hox B6 is a protein that in humans is encoded by the HOXB6 gene 5 6 7 HOXB6IdentifiersAliasesHOXB6 HOX2 HOX2B HU 2 Hox 2 2 homeobox B6External IDsOMIM 142961 MGI 96187 HomoloGene 7366 GeneCards HOXB6Gene location Human Chr Chromosome 17 human 1 Band17q21 32Start48 595 751 bp 1 End48 604 992 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 D 11 59 82 cMStart96 183 302 bp 2 End96 192 395 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incorpus epididymisseminal vesiculacaput epididymisright uterine tubetransverse colonkidneyrenal medullaendometriumrectumgastric mucosaTop expressed inseminal vesiculaadrenal glandallantoisanterior horn of spinal cordinner renal medullarenal cortexkidneyuterusneural tubeproximal tubuleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding transcription factor activity sequence specific DNA binding DNA binding protein binding RNA binding RNA polymerase II cis regulatory region sequence specific DNA binding DNA binding transcription factor activity RNA polymerase II specific DNA binding transcription activator activity RNA polymerase II specificCellular componentnucleusBiological processembryonic skeletal system morphogenesis multicellular organism development erythrocyte homeostasis regulation of transcription DNA templated transcription DNA templated anterior posterior pattern specification embryonic skeletal system development regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase IISources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez321615414EnsemblENSG00000108511ENSMUSG00000000690UniProtP17509P09023RefSeq mRNA NM 018952NM 156036NM 156037NM 001369397NM 008269RefSeq protein NP 061825NP 001356326NP 032295Location UCSC Chr 17 48 6 48 6 MbChr 11 96 18 96 19 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 During development 3 See also 4 References 5 Further reading 6 External linksFunction editThis gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA binding domain It is included in a cluster of homeobox B genes located on chromosome 17 The encoded protein functions as a sequence specific transcription factor that is involved in development including that of lung and skin and has been localized to both the nucleus and cytoplasm Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer 7 During development editHOX B6 gene is only expressed in erythoid progenitor cells which are the precursor to red blood cells used for transport of oxygen and carbon dioxide throughout the body During development the formation of the HOX gene factor happens in the first stages of fetal development namely soon after the establishment of the mesoderm which is the middle layer of the future embryo However HOX B6 is only expressed once the undifferentiated stem cells of the embryo distinguish themselves into the erythpoietic phase The research has shown that HOX B6 is not expressed in hematopoietic stem cells located in the red bone marrow which are the precursor cells to all types of blood cells or primordial germ cells PGCs the precursor to cells passed on in each generation 8 Since it is a transcriptional factor HOX B6 regulates erythpoigenesis red blood cell formation using mRNA as the basis for certain protein productions The specific gene factor for erytopoigenesis has relatively been unobserved in the scientific community and no known diseases have been associated with a defect HOX B6 gene However it has been shown in correlation with major skeletal deformations 9 HOXB6 is a structural protein that has been shown to influence the growth and differentiation of the different blood lineages This gene has also been shown to encourage the growth of granulocytes and monocytes but at the cost of other blood cells HOXB6 has the ability to cause the indefinite proliferation of murine marrow cells as well as expand hematopoietic stem cells When expressed abnormally HOXB6 displays many characteristics of a potent oncoprotein An oncoprotein can cause the transformation of a normal cell into a tumor cell Overexpression of HOXB6 along with the addition of MEIS1 protein has been implicated in the development of acute myeloid leukemia AML Acute myeloid leukemia is a cancer of the blood cells specifically the leukocytes The chromosomal irregularity most frequently seen in HOXB6 AML is a reappearing interstitial deletion of chromosome 2 Fundamental HOXB6 expression stops myeloid differentiation and debilitates erythropoiesis megakaryopoiesis and lymphopoiesis 10 See also editHomeoboxReferences edit a b c GRCh38 Ensembl release 89 ENSG00000108511 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000000690 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine McAlpine PJ Shows TB Jul 1990 Nomenclature for human homeobox genes Genomics 7 3 460 doi 10 1016 0888 7543 90 90186 X PMID 1973146 Scott MP Nov 1992 Vertebrate homeobox gene nomenclature Cell 71 4 551 3 doi 10 1016 0092 8674 92 90588 4 PMID 1358459 S2CID 13370372 a b Entrez Gene HOXB6 homeobox B6 Zimmermann F Rich IN Apr 1997 Mammalian homeobox B6 expression can be correlated with erythropoietin production sites and erythropoiesis during development but not with hematopoietic or nonhematopoietic stem cell populations Blood 89 8 2723 35 doi 10 1182 blood V89 8 2723 PMID 9108390 Rancourt DE Tsuzuki T Capecchi MR Jan 1995 Genetic interaction between hoxb 5 and hoxb 6 is revealed by nonallelic noncomplementation Genes amp Development 9 1 108 22 doi 10 1101 gad 9 1 108 PMID 7828847 Fischbach NA Rozenfeld S Shen W Fong S Chrobak D Ginzinger D Kogan SC Radhakrishnan A Le Beau MM Largman C Lawrence HJ 2005 HOXB6 overexpression in murine bone marrow immortalizes a myelomonocytic precursor in vitro and causes hematopoietic stem cell expansion and acute myeloid leukemia in vivo Blood 105 4 1456 66 doi 10 1182 blood 2004 04 1583 PMID 15522959 Further reading editKaur S Singh G Stock JL Schreiner CM Kier AB Yager KL Mucenski ML Scott WJ Potter SS Dec 1992 Dominant mutation of the murine Hox 2 2 gene results in developmental abnormalities The Journal of Experimental Zoology 264 3 323 36 doi 10 1002 jez 1402640311 PMID 1358998 Shen WF Detmer K Simonitch Eason TA Lawrence HJ Largman C Feb 1991 Alternative splicing of the HOX 2 2 homeobox gene in human hematopoietic cells and murine embryonic and adult tissues Nucleic Acids Research 19 3 539 45 doi 10 1093 nar 19 3 539 PMC 333645 PMID 1672751 Peverali FA D Esposito M Acampora D Bunone G Negri M Faiella A Stornaiuolo A Pannese M Migliaccio E Simeone A Oct 1990 Expression of HOX homeogenes in human neuroblastoma cell culture lines Differentiation Research in Biological Diversity 45 1 61 9 doi 10 1111 j 1432 0436 1990 tb00458 x PMID 1981366 Giampaolo A Acampora D Zappavigna V Pannese M D Esposito M Care A Faiella A Stornaiuolo A Russo G Simeone A Jun 1989 Differential expression of human HOX 2 genes along the anterior posterior axis in embryonic central nervous system Differentiation Research in Biological Diversity 40 3 191 7 doi 10 1111 j 1432 0436 1989 tb00598 x PMID 2570724 Shen WF Largman C Lowney P Corral JC Detmer K Hauser CA Simonitch TA Hack FM Lawrence HJ Nov 1989 Lineage restricted expression of homeobox containing genes in human hematopoietic cell lines Proceedings of the National Academy of Sciences of the United States of America 86 21 8536 40 Bibcode 1989PNAS 86 8536S doi 10 1073 pnas 86 21 8536 PMC 298317 PMID 2573064 Acampora D D Esposito M Faiella A Pannese M Migliaccio E Morelli F Stornaiuolo A Nigro V Simeone A Boncinelli E Dec 1989 The human HOX gene family Nucleic Acids Research 17 24 10385 402 doi 10 1093 nar 17 24 10385 PMC 335308 PMID 2574852 Boncinelli E Acampora D Pannese M D Esposito M Somma R Gaudino G Stornaiuolo A Cafiero M Faiella A Simeone A 1990 Organization of human class I homeobox genes Genome 31 2 745 56 doi 10 1139 g89 133 PMID 2576652 Murphy PD Ferguson Smith AC Miki T Feinberg AA Ruddle FH Kidd KK Aug 1987 A moderately frequent RFLP identified by both SacI and BanII with a probe from the HOX2 locus in man 17q11 17q22 Nucleic Acids Research 15 15 6311 doi 10 1093 nar 15 15 6311 PMC 306101 PMID 2888083 Levine M Rubin GM Tjian R Oct 1984 Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila Cell 38 3 667 73 doi 10 1016 0092 8674 84 90261 7 PMID 6091895 S2CID 28848659 Chang CP Shen WF Rozenfeld S Lawrence HJ Largman C Cleary ML Mar 1995 Pbx proteins display hexapeptide dependent cooperative DNA binding with a subset of Hox proteins Genes amp Development 9 6 663 74 doi 10 1101 gad 9 6 663 PMID 7729685 Castronovo V Kusaka M Chariot A Gielen J Sobel M Jan 1994 Homeobox genes potential candidates for the transcriptional control of the transformed and invasive phenotype Biochemical Pharmacology 47 1 137 43 doi 10 1016 0006 2952 94 90447 2 PMID 7906121 Apiou F Flagiello D Cillo C Malfoy B Poupon MF Dutrillaux B 1996 Fine mapping of human HOX gene clusters Cytogenetics and Cell Genetics 73 1 2 114 5 doi 10 1159 000134320 PMID 8646877 Sawcer S Jones HB Feakes R Gray J Smaldon N Chataway J Robertson N Clayton D Goodfellow PN Compston A Aug 1996 A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22 Nature Genetics 13 4 464 8 doi 10 1038 ng0896 464 PMID 8696343 S2CID 20543659 Zimmermann F Rich IN Apr 1997 Mammalian homeobox B6 expression can be correlated with erythropoietin production sites and erythropoiesis during development but not with hematopoietic or nonhematopoietic stem cell populations Blood 89 8 2723 35 doi 10 1182 blood V89 8 2723 PMID 9108390 Vider BZ Zimber A Hirsch D Estlein D Chastre E Prevot S Gespach C Yaniv A Gazit A Mar 1997 Human colorectal carcinogenesis is associated with deregulation of homeobox gene expression Biochemical and Biophysical Research Communications 232 3 742 8 doi 10 1006 bbrc 1997 6364 PMID 9126347 Ohnishi K Tobita T Sinjo K Takeshita A Ohno R Nov 1998 Modulation of homeobox B6 and B9 genes expression in human leukemia cell lines during myelomonocytic differentiation Leukemia amp Lymphoma 31 5 6 599 608 doi 10 3109 10428199809057620 PMID 9922051 Fienberg AA Nordstedt C Belting HG Czernik AJ Nairn AC Gandy S Greengard P Ruddle FH Apr 1999 Phylogenetically conserved CK II phosphorylation site of the murine homeodomain protein Hoxb 6 The Journal of Experimental Zoology 285 1 76 84 doi 10 1002 SICI 1097 010X 19990415 285 1 lt 76 AID JEZ9 gt 3 0 CO 2 K PMID 10327653 Vider BZ Zimber A Chastre E Gespach C Halperin M Mashiah P Yaniv A Gazit A Jun 2000 Deregulated expression of homeobox containing genes HOXB6 B8 C8 C9 and Cdx 1 in human colon cancer cell lines Biochemical and Biophysical Research Communications 272 2 513 8 doi 10 1006 bbrc 2000 2804 PMID 10833444 External links editHOXB6 protein human at the U S National Library of Medicine Medical Subject Headings MeSH Overview of all the structural information available in the PDB for UniProt Q24645 Drosophila subobscura Homeotic protein antennapedia at the PDBe KB This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title HOXB6 amp oldid 1103566560, wikipedia, wiki, book, books, library,
