DAZ3
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.{{cite journal | vauthors = Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC | title = Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome | journal = Genomics | volume = 67 | issue = 3 | pages = 256–67 |date=Sep 2000 | pmid = 10936047 | doi = 10.1006/geno.2000.6260 }}{{cite web | title = Entrez Gene: DAZ3 deleted in azoospermia 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57054}}
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.
References
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Further reading
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- {{cite journal | vauthors=Foresta C, Ferlin A, Moro E |title=[Microdeletion of chromosome Y in male infertility: role of the DAZ gene] |journal=Ann. Ital. Med. Int. |volume=16 |issue= 2 |pages= 82–92 |year= 2002 |pmid= 11688365 |display-authors=etal}}
- {{cite journal | vauthors=Fox MS, Reijo Pera RA |title=Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair |journal=Mol. Cell. Endocrinol. |volume=184 |issue= 1–2 |pages= 41–9 |year= 2002 |pmid= 11694340 |doi=10.1016/S0303-7207(01)00646-3 |s2cid=54277826 }}
- {{cite journal | vauthors=Vogt PH, Fernandes S |title=Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis? |journal=APMIS |volume=111 |issue= 1 |pages= 115–26; discussion 126–7 |year= 2003 |pmid= 12752250 |doi=10.1034/j.1600-0463.2003.11101161.x |s2cid=41326783 }}
- {{cite journal | vauthors=Reijo R, Lee TY, Salo P |title=Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene |journal=Nat. Genet. |volume=10 |issue= 4 |pages= 383–93 |year= 1995 |pmid= 7670487 |doi= 10.1038/ng0895-383 |s2cid=2917750 |display-authors=etal}}
- {{cite journal | vauthors=Reijo R, Seligman J, Dinulos MB |title=Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty |journal=Genomics |volume=35 |issue= 2 |pages= 346–52 |year= 1996 |pmid= 8661148 |doi= 10.1006/geno.1996.0366 |display-authors=etal}}
- {{cite journal | vauthors=Cooke HJ, Lee M, Kerr S, Ruggiu M |title=A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads |journal=Hum. Mol. Genet. |volume=5 |issue= 4 |pages= 513–6 |year= 1996 |pmid= 8845845 |doi=10.1093/hmg/5.4.513 |doi-access=free }}
- {{cite journal | vauthors=Saxena R, Brown LG, Hawkins T |title=The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 292–9 |year= 1996 |pmid= 8896558 |doi= 10.1038/ng1196-292 |s2cid=34964224 |display-authors=etal}}
- {{cite journal | vauthors=Yen PH, Chai NN, Salido EC |title=The human autosomal gene DAZLA: testis specificity and a candidate for male infertility |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 2013–7 |year= 1997 |pmid= 8968756 |doi=10.1093/hmg/5.12.2013 |doi-access=free }}
- {{cite journal | vauthors=Yen PH, Chai NN, Salido EC |title=The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions |journal=Mamm. Genome |volume=8 |issue= 10 |pages= 756–9 |year= 1997 |pmid= 9321470 |doi=10.1007/s003359900560 |s2cid=33258251 }}
- {{cite journal | vauthors=Agulnik AI, Zharkikh A, Boettger-Tong H |title=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 |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1371–7 |year= 1998 |pmid= 9700189 |doi=10.1093/hmg/7.9.1371 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Tsui S, Dai T, Roettger S |title=Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1 |journal=Genomics |volume=65 |issue= 3 |pages= 266–73 |year= 2000 |pmid= 10857750 |doi= 10.1006/geno.2000.6169 |display-authors=etal}}
- {{cite journal | vauthors=Ruggiu M, Cooke HJ |title=In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein |journal=Gene |volume=252 |issue= 1–2 |pages= 119–26 |year= 2000 |pmid= 10903443 |doi=10.1016/S0378-1119(00)00219-5 }}
- {{cite journal | vauthors=Reijo RA, Dorfman DM, Slee R |title=DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice |journal=Biol. Reprod. |volume=63 |issue= 5 |pages= 1490–6 |year= 2000 |pmid= 11058556 |doi=10.1095/biolreprod63.5.1490 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Moro E, Ferlin A, Yen PH |title=Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue= 11 |pages= 4069–73 |year= 2000 |doi=10.1210/jcem.85.11.6929 |pmid= 11095434 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Xu EY, Moore FL, Pera RA |title=A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 13 |pages= 7414–9 |year= 2001 |pmid= 11390979 |doi= 10.1073/pnas.131090498 | pmc=34683 |bibcode=2001PNAS...98.7414Y |doi-access=free }}
- {{cite journal | vauthors=Friel A, Houghton JA, Glennon M |title=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 |journal=Int. J. Androl. |volume=25 |issue= 1 |pages= 59–64 |year= 2002 |pmid= 11869379 |doi=10.1046/j.1365-2605.2002.00326.x |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Ferlin A, Moro E, Rossi A, Foresta C |title=A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men |journal=J. Endocrinol. Invest. |volume=25 |issue= 1 |pages= RC1–3 |year= 2002 |pmid= 11883873 |doi= 10.1007/bf03343952|s2cid=24737444 }}
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