DAZ3 explained

Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.^{[1] [2]}

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.

Further reading

• Foresta C, Ferlin A, Moro E . [Microdeletion of chromosome Y in male infertility: role of the DAZ gene] . Ann. Ital. Med. Int. . 16 . 2 . 82–92 . 2002 . 11688365 . etal.
• Fox MS, Reijo Pera RA . 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 . 2002 . 11694340 . 10.1016/S0303-7207(01)00646-3 . 54277826 .
• Vogt PH, Fernandes S . Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis? . APMIS . 111 . 1 . 115–26; discussion 126–7 . 2003 . 12752250 . 10.1034/j.1600-0463.2003.11101161.x . 41326783 .
• Reijo R, Lee TY, Salo P . Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene . Nat. Genet. . 10 . 4 . 383–93 . 1995 . 7670487 . 10.1038/ng0895-383 . 2917750 . etal.
• Reijo R, Seligman J, Dinulos MB . 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 . 1996 . 8661148 . 10.1006/geno.1996.0366 . etal.
• Cooke HJ, Lee M, Kerr S, Ruggiu M . 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 . 1996 . 8845845 . 10.1093/hmg/5.4.513 . free .
• Saxena R, Brown LG, Hawkins T . 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 . 1996 . 8896558 . 10.1038/ng1196-292 . 34964224 . etal.
• Yen PH, Chai NN, Salido EC . The human autosomal gene DAZLA: testis specificity and a candidate for male infertility . Hum. Mol. Genet. . 5 . 12 . 2013–7 . 1997 . 8968756 . 10.1093/hmg/5.12.2013 . free .
• Yen PH, Chai NN, Salido EC . 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 . 1997 . 9321470 . 10.1007/s003359900560 . 33258251 .
• Agulnik AI, Zharkikh A, Boettger-Tong H . 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 . 1998 . 9700189 . 10.1093/hmg/7.9.1371 . etal. free .
• Tsui S, Dai T, Roettger S . Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1 . Genomics . 65 . 3 . 266–73 . 2000 . 10857750 . 10.1006/geno.2000.6169 . etal.
• Ruggiu M, Cooke HJ . In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein . Gene . 252 . 1–2 . 119–26 . 2000 . 10903443 . 10.1016/S0378-1119(00)00219-5 .
• Reijo RA, Dorfman DM, Slee R . 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 . 2000 . 11058556 . 10.1095/biolreprod63.5.1490 . etal. free .
• Moro E, Ferlin A, Yen PH . 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 . 2000 . 10.1210/jcem.85.11.6929 . 11095434 . etal. free .
• Xu EY, Moore FL, Pera RA . 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 . 2001 . 11390979 . 10.1073/pnas.131090498 . 34683 . 2001PNAS...98.7414Y . free .
• Friel A, Houghton JA, Glennon M . 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 . 2002 . 11869379 . 10.1046/j.1365-2605.2002.00326.x . etal. free .
• Ferlin A, Moro E, Rossi A, Foresta C . A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men . J. Endocrinol. Invest. . 25 . 1 . RC1–3 . 2002 . 11883873 . 10.1007/bf03343952. 24737444 .

Notes and References

1. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC . Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome . Genomics . 67 . 3 . 256–67 . Sep 2000 . 10936047 . 10.1006/geno.2000.6260 .
2. Web site: Entrez Gene: DAZ3 deleted in azoospermia 3.