This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomalazoospermia factor (AZF). Its expression is restricted to pre-meioticgerm 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 three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains.[3]
^Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487. S2CID 2917750.
^ abcTsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 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 (Jul 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.
Further readingedit
Foresta C, Ferlin A, Moro E, Marin P, Rossi A, Scandellari C (2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Annali Italiani di Medicina Interna. 16 (2): 82–92. PMID 11688365.
Fox MS, Reijo Pera RA (Nov 2001). "Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair". Molecular and Cellular Endocrinology. 184 (1–2): 41–9. doi:10.1016/S0303-7207(01)00646-3. PMID 11694340. S2CID 54277826.
Vogt PH, Fernandes S (Jan 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, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487. S2CID 2917750.
Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC (Jul 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 (Apr 1996). "A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads". Human Molecular Genetics. 5 (4): 513–6. doi:10.1093/hmg/5.4.513. PMID 8845845.
Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Nov 1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nature Genetics. 14 (3): 292–9. doi:10.1038/ng1196-292. PMID 8896558. S2CID 34964224.
Yen PH, Chai NN, Salido EC (Dec 1996). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Human Molecular Genetics. 5 (12): 2013–7. doi:10.1093/hmg/5.12.2013. PMID 8968756.
Menke DB, Mutter GL, Page DC (Jan 1997). "Expression of DAZ, an azoospermia factor candidate, in human spermatogonia". American Journal of Human Genetics. 60 (1): 237–41. PMC1712565. PMID 8981970.
Yen PH, Chai NN, Salido EC (Oct 1997). "The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions". Mammalian Genome. 8 (10): 756–9. doi:10.1007/s003359900560. PMID 9321470. S2CID 33258251.
Agulnik AI, Zharkikh A, Boettger-Tong H, Bourgeron T, McElreavey K, Bishop CE (Sep 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". Human Molecular Genetics. 7 (9): 1371–7. doi:10.1093/hmg/7.9.1371. PMID 9700189.
Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 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 (Jul 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.
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Aug 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.
Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H, Page DC (Nov 2000). "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice". Biology of Reproduction. 63 (5): 1490–6. doi:10.1095/biolreprod63.5.1490. PMID 11058556.
Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, Foresta C (Nov 2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". The Journal of Clinical Endocrinology and Metabolism. 85 (11): 4069–73. doi:10.1210/jcem.85.11.6929. PMID 11095434.
Xu EY, Moore FL, Pera RA (Jun 2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proceedings of the National Academy of Sciences of the United States of America. 98 (13): 7414–9. Bibcode:2001PNAS...98.7414Y. doi:10.1073/pnas.131090498. PMC34683. PMID 11390979.
Friel A, Houghton JA, Glennon M, Lavery R, Smith T, Nolan A, Maher M (Feb 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". International Journal of Andrology. 25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID 11869379.
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daz1, deleted, azoospermia, also, known, protein, which, humans, encoded, gene, identifiersaliases, spgy, deleted, azoospermia, 1external, idsomim, 400003, homologene, 88435, genecards, gene, location, human, chromosome, human, bandyq11, 223start23, end23, exp. Deleted in azoospermia 1 also known as DAZ1 is a protein which in humans is encoded by the DAZ1 gene 3 4 DAZ1IdentifiersAliasesDAZ1 DAZ SPGY deleted in azoospermia 1External IDsOMIM 400003 HomoloGene 88435 GeneCards DAZ1Gene location Human Chr Y chromosome human 1 BandYq11 223Start23 129 355 bp 1 End23 199 010 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed infundusbody of stomachskin of abdomenAchilles tendonright lobe of liverganglionic eminencehypothalamusduodenumplacentakidneyn aMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiontranslation activator activity protein binding RNA binding nucleic acid binding mRNA binding mRNA 3 UTR bindingCellular componentnucleus cytoplasm intracellular anatomical structure protein containing complexBiological processmulticellular organism development cell differentiation positive regulation of translational initiation spermatogenesis 3 UTR mediated mRNA stabilization germ cell developmentSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez1617n aEnsemblENSG00000188120n aUniProtQ9NQZ3n aRefSeq mRNA NM 004081NM 001388496n aRefSeq protein NP 004072n aLocation UCSC Chr Y 23 13 23 2 Mbn aPubMed search 2 n aWikidataView Edit Human Contents 1 Function 2 Interactions 3 References 4 Further readingFunction editThis 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 pre meiotic 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 three copies of the 10 8 kb repeat However no transcripts containing three copies of the RRM domain have been described thus the RefSeq for this gene contains only two RRM domains 3 Interactions editDAZ1 has been shown to interact with DAZAP2 5 DAZL 5 6 and DAZ associated protein 1 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000188120 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene DAZ1 deleted in azoospermia 1 Reijo R Lee TY Salo P Alagappan R Brown LG Rosenberg M Rozen S Jaffe T Straus D Hovatta O Aug 1995 Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA binding protein gene Nature Genetics 10 4 383 93 doi 10 1038 ng0895 383 PMID 7670487 S2CID 2917750 a b c Tsui S Dai T Roettger S Schempp W Salido EC Yen PH May 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 Jul 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 Further reading editForesta C Ferlin A Moro E Marin P Rossi A Scandellari C 2002 Microdeletion of chromosome Y in male infertility role of the DAZ gene Annali Italiani di Medicina Interna 16 2 82 92 PMID 11688365 Fox MS Reijo Pera RA Nov 2001 Male infertility genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair Molecular and Cellular Endocrinology 184 1 2 41 9 doi 10 1016 S0303 7207 01 00646 3 PMID 11694340 S2CID 54277826 Vogt PH Fernandes S Jan 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 Alagappan R Brown LG Rosenberg M Rozen S Jaffe T Straus D Hovatta O Aug 1995 Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA binding protein gene Nature Genetics 10 4 383 93 doi 10 1038 ng0895 383 PMID 7670487 S2CID 2917750 Reijo R Seligman J Dinulos MB Jaffe T Brown LG Disteche CM Page DC Jul 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 Apr 1996 A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads Human Molecular Genetics 5 4 513 6 doi 10 1093 hmg 5 4 513 PMID 8845845 Saxena R Brown LG Hawkins T Alagappan RK Skaletsky H Reeve MP Reijo R Rozen S Dinulos MB Disteche CM Page DC Nov 1996 The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed repeatedly amplified and pruned Nature Genetics 14 3 292 9 doi 10 1038 ng1196 292 PMID 8896558 S2CID 34964224 Yen PH Chai NN Salido EC Dec 1996 The human autosomal gene DAZLA testis specificity and a candidate for male infertility Human Molecular Genetics 5 12 2013 7 doi 10 1093 hmg 5 12 2013 PMID 8968756 Menke DB Mutter GL Page DC Jan 1997 Expression of DAZ an azoospermia factor candidate in human spermatogonia American Journal of Human Genetics 60 1 237 41 PMC 1712565 PMID 8981970 Yen PH Chai NN Salido EC Oct 1997 The human DAZ genes a putative male infertility factor on the Y chromosome are highly polymorphic in the DAZ repeat regions Mammalian Genome 8 10 756 9 doi 10 1007 s003359900560 PMID 9321470 S2CID 33258251 Agulnik AI Zharkikh A Boettger Tong H Bourgeron T McElreavey K Bishop CE Sep 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 Human Molecular Genetics 7 9 1371 7 doi 10 1093 hmg 7 9 1371 PMID 9700189 Tsui S Dai T Roettger S Schempp W Salido EC Yen PH May 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 Jul 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 Saxena R de Vries JW Repping S Alagappan RK Skaletsky H Brown LG Ma P Chen E Hoovers JM Page DC Aug 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 Reijo RA Dorfman DM Slee R Renshaw AA Loughlin KR Cooke H Page DC Nov 2000 DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice Biology of Reproduction 63 5 1490 6 doi 10 1095 biolreprod63 5 1490 PMID 11058556 Moro E Ferlin A Yen PH Franchi PG Palka G Foresta C Nov 2000 Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome The Journal of Clinical Endocrinology and Metabolism 85 11 4069 73 doi 10 1210 jcem 85 11 6929 PMID 11095434 Xu EY Moore FL Pera RA Jun 2001 A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans Proceedings of the National Academy of Sciences of the United States of America 98 13 7414 9 Bibcode 2001PNAS 98 7414Y doi 10 1073 pnas 131090498 PMC 34683 PMID 11390979 Friel A Houghton JA Glennon M Lavery R Smith T Nolan A Maher M Feb 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 International Journal of Andrology 25 1 59 64 doi 10 1046 j 1365 2605 2002 00326 x PMID 11869379 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