This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat.[4]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000187191 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Sep 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
Foresta C, Ferlin A, Moro E, et al. (2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Ann. Ital. Med. Int. 16 (2): 82–92. PMID 11688365.
Fox MS, Reijo Pera RA (2002). "Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair". Mol. Cell. Endocrinol. 184 (1–2): 41–9. doi:10.1016/S0303-7207(01)00646-3. PMID 11694340. S2CID 54277826.
Vogt PH, Fernandes S (2003). "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?". APMIS. 111 (1): 115–26, discussion 126–7. doi:10.1034/j.1600-0463.2003.11101161.x. PMID 12752250. S2CID 41326783.
Reijo R, Lee TY, Salo P, et al. (1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nat. Genet. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487. S2CID 2917750.
Reijo R, Seligman J, Dinulos MB, et al. (1996). "Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty". Genomics. 35 (2): 346–52. doi:10.1006/geno.1996.0366. PMID 8661148.
Cooke HJ, Lee M, Kerr S, Ruggiu M (1996). "A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads". Hum. Mol. Genet. 5 (4): 513–6. doi:10.1093/hmg/5.4.513. PMID 8845845.
Saxena R, Brown LG, Hawkins T, et al. (1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nat. Genet. 14 (3): 292–9. doi:10.1038/ng1196-292. PMID 8896558. S2CID 34964224.
Yen PH, Chai NN, Salido EC (1997). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Hum. Mol. Genet. 5 (12): 2013–7. doi:10.1093/hmg/5.12.2013. PMID 8968756.
Yen PH, Chai NN, Salido EC (1997). "The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions". Mamm. Genome. 8 (10): 756–9. doi:10.1007/s003359900560. PMID 9321470. S2CID 33258251.
Agulnik AI, Zharkikh A, Boettger-Tong H, et al. (1998). "Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations". Hum. Mol. Genet. 7 (9): 1371–7. doi:10.1093/hmg/7.9.1371. PMID 9700189.
Tsui S, Dai T, Roettger S, et al. (2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
Ruggiu M, Cooke HJ (2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.
Reijo RA, Dorfman DM, Slee R, et al. (2000). "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice". Biol. Reprod. 63 (5): 1490–6. doi:10.1095/biolreprod63.5.1490. PMID 11058556.
Moro E, Ferlin A, Yen PH, et al. (2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". J. Clin. Endocrinol. Metab. 85 (11): 4069–73. doi:10.1210/jcem.85.11.6929. PMID 11095434.
Xu EY, Moore FL, Pera RA (2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7414–9. Bibcode:2001PNAS...98.7414Y. doi:10.1073/pnas.131090498. PMC34683. PMID 11390979.
Friel A, Houghton JA, Glennon M, et al. (2002). "A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men". Int. J. Androl. 25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID 11869379.
Ferlin A, Moro E, Rossi A, Foresta C (2002). "A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men". J. Endocrinol. Invest. 25 (1): RC1–3. doi:10.1007/bf03343952. PMID 11883873. S2CID 24737444.
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daz3, deleted, azoospermia, protein, protein, that, humans, encoded, gene, identifiersaliases, pdp1679, deleted, azoospermia, 3external, idsomim, 400027, homologene, 133282, genecards, gene, location, human, chromosome, human, bandyq11, 23start24, end24, expre. Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene 3 4 DAZ3IdentifiersAliasesDAZ3 pDP1679 deleted in azoospermia 3External IDsOMIM 400027 HomoloGene 133282 GeneCards DAZ3Gene location Human Chr Y chromosome human 1 BandYq11 23Start24 763 069 bp 1 End24 813 492 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed infundusbody of stomachreproductive systemreproductive organgonadmale reproductive systemtesticlen aMore reference expression dataBioGPSn aGene ontologyMolecular functionRNA binding nucleic acid binding translation activator activity protein binding mRNA binding mRNA 3 UTR bindingCellular componentnucleus cytoplasm intracellular anatomical structure protein containing complexBiological processmulticellular organism development cell differentiation spermatogenesis positive regulation of translational initiation 3 UTR mediated mRNA stabilization germ cell developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez57054n aEnsemblENSG00000187191n aUniProtQ9NR90n aRefSeq mRNA NM 020364n aRefSeq protein NP 065097n aLocation UCSC Chr Y 24 76 24 81 Mbn aPubMed search 2 n aWikidataView Edit HumanThis gene is a member of the DAZ gene family and is a candidate for the human Y chromosomal azoospermia factor AZF Its expression is restricted to premeiotic germ cells particularly in spermatogonia It encodes an RNA binding protein that is important for spermatogenesis Four copies of this gene are found on chromosome Y within palindromic duplications one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome Each gene contains a 2 4 kb repeat including a 72 bp exon called the DAZ repeat the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat Each copy of the gene also contains a 10 8 kb region that may be amplified this region includes five exons that encode an RNA recognition motif RRM domain This gene contains one copy of the 10 8 kb repeat 4 References edit a b c GRCh38 Ensembl release 89 ENSG00000187191 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Saxena R de Vries JW Repping S Alagappan RK Skaletsky H Brown LG Ma P Chen E Hoovers JM Page DC Sep 2000 Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome Genomics 67 3 256 67 doi 10 1006 geno 2000 6260 PMID 10936047 a b Entrez Gene DAZ3 deleted in azoospermia 3 Further reading editForesta C Ferlin A Moro E et al 2002 Microdeletion of chromosome Y in male infertility role of the DAZ gene Ann Ital Med Int 16 2 82 92 PMID 11688365 Fox MS Reijo Pera RA 2002 Male infertility genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair Mol Cell Endocrinol 184 1 2 41 9 doi 10 1016 S0303 7207 01 00646 3 PMID 11694340 S2CID 54277826 Vogt PH Fernandes S 2003 Polymorphic DAZ gene family in polymorphic structure of AZFc locus Artwork or functional for human spermatogenesis APMIS 111 1 115 26 discussion 126 7 doi 10 1034 j 1600 0463 2003 11101161 x PMID 12752250 S2CID 41326783 Reijo R Lee TY Salo P et al 1995 Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA binding protein gene Nat Genet 10 4 383 93 doi 10 1038 ng0895 383 PMID 7670487 S2CID 2917750 Reijo R Seligman J Dinulos MB et al 1996 Mouse autosomal homolog of DAZ a candidate male sterility gene in humans is expressed in male germ cells before and after puberty Genomics 35 2 346 52 doi 10 1006 geno 1996 0366 PMID 8661148 Cooke HJ Lee M Kerr S Ruggiu M 1996 A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads Hum Mol Genet 5 4 513 6 doi 10 1093 hmg 5 4 513 PMID 8845845 Saxena R Brown LG Hawkins T et al 1996 The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed repeatedly amplified and pruned Nat Genet 14 3 292 9 doi 10 1038 ng1196 292 PMID 8896558 S2CID 34964224 Yen PH Chai NN Salido EC 1997 The human autosomal gene DAZLA testis specificity and a candidate for male infertility Hum Mol Genet 5 12 2013 7 doi 10 1093 hmg 5 12 2013 PMID 8968756 Yen PH Chai NN Salido EC 1997 The human DAZ genes a putative male infertility factor on the Y chromosome are highly polymorphic in the DAZ repeat regions Mamm Genome 8 10 756 9 doi 10 1007 s003359900560 PMID 9321470 S2CID 33258251 Agulnik AI Zharkikh A Boettger Tong H et al 1998 Evolution of the DAZ gene family suggests that Y linked DAZ plays little or a limited role in spermatogenesis but underlines a recent African origin for human populations Hum Mol Genet 7 9 1371 7 doi 10 1093 hmg 7 9 1371 PMID 9700189 Tsui S Dai T Roettger S et al 2000 Identification of two novel proteins that interact with germ cell specific RNA binding proteins DAZ and DAZL1 Genomics 65 3 266 73 doi 10 1006 geno 2000 6169 PMID 10857750 Ruggiu M Cooke HJ 2000 In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein Gene 252 1 2 119 26 doi 10 1016 S0378 1119 00 00219 5 PMID 10903443 Reijo RA Dorfman DM Slee R et al 2000 DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice Biol Reprod 63 5 1490 6 doi 10 1095 biolreprod63 5 1490 PMID 11058556 Moro E Ferlin A Yen PH et al 2000 Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome J Clin Endocrinol Metab 85 11 4069 73 doi 10 1210 jcem 85 11 6929 PMID 11095434 Xu EY Moore FL Pera RA 2001 A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans Proc Natl Acad Sci U S A 98 13 7414 9 Bibcode 2001PNAS 98 7414Y doi 10 1073 pnas 131090498 PMC 34683 PMID 11390979 Friel A Houghton JA Glennon M et al 2002 A preliminary report on the implication of RT PCR detection of DAZ RBMY1 USP9Y and Protamine 2 mRNA in testicular biopsy samples from azoospermic men Int J Androl 25 1 59 64 doi 10 1046 j 1365 2605 2002 00326 x PMID 11869379 Ferlin A Moro E Rossi A Foresta C 2002 A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men J Endocrinol Invest 25 1 RC1 3 doi 10 1007 bf03343952 PMID 11883873 S2CID 24737444 nbsp This protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title DAZ3 amp oldid 1136343401, wikipedia, wiki, book, books, library,
