DAZ1 explained

Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.^{[1] [2]}

Function

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 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.

Interactions

DAZ1 has been shown to interact with DAZAP2,^[3] DAZL^{[3] [4]} and DAZ associated protein 1.^[3]

Further reading

• Foresta C, Ferlin A, Moro E, Marin P, Rossi A, Scandellari C . [Microdeletion of chromosome Y in male infertility: role of the DAZ gene] . Annali Italiani di Medicina Interna . 16 . 2 . 82–92 . 2002 . 11688365 .
• Fox MS, Reijo Pera RA . 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 . Nov 2001 . 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 . Jan 2003 . 12752250 . 10.1034/j.1600-0463.2003.11101161.x . 41326783 .
• Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O . Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene . Nature Genetics . 10 . 4 . 383–93 . Aug 1995 . 7670487 . 10.1038/ng0895-383 . 2917750 .
• Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC . 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 . Jul 1996 . 8661148 . 10.1006/geno.1996.0366 .
• 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 . Human Molecular Genetics . 5 . 4 . 513–6 . Apr 1996 . 8845845 . 10.1093/hmg/5.4.513 . free .
• Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC . 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 . Nov 1996 . 8896558 . 10.1038/ng1196-292 . 34964224 .
• Yen PH, Chai NN, Salido EC . The human autosomal gene DAZLA: testis specificity and a candidate for male infertility . Human Molecular Genetics . 5 . 12 . 2013–7 . Dec 1996 . 8968756 . 10.1093/hmg/5.12.2013 . free .
• Menke DB, Mutter GL, Page DC . Expression of DAZ, an azoospermia factor candidate, in human spermatogonia . American Journal of Human Genetics . 60 . 1 . 237–41 . Jan 1997 . 8981970 . 1712565 .
• 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 . Mammalian Genome . 8 . 10 . 756–9 . Oct 1997 . 9321470 . 10.1007/s003359900560 . 33258251 .
• Agulnik AI, Zharkikh A, Boettger-Tong H, Bourgeron T, McElreavey K, Bishop CE . 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 . Sep 1998 . 9700189 . 10.1093/hmg/7.9.1371 . free .
• Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH . Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1 . Genomics . 65 . 3 . 266–73 . May 2000 . 10857750 . 10.1006/geno.2000.6169 .
• Ruggiu M, Cooke HJ . In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein . Gene . 252 . 1–2 . 119–26 . Jul 2000 . 10903443 . 10.1016/S0378-1119(00)00219-5 .
• 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 . Aug 2000 . 10936047 . 10.1006/geno.2000.6260 .
• Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H, Page DC . 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 . Nov 2000 . 11058556 . 10.1095/biolreprod63.5.1490 . free .
• Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, Foresta C . 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 . Nov 2000 . 10.1210/jcem.85.11.6929 . 11095434 . 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 . Proceedings of the National Academy of Sciences of the United States of America . 98 . 13 . 7414–9 . Jun 2001 . 11390979 . 34683 . 10.1073/pnas.131090498 . 2001PNAS...98.7414Y . free .
• Friel A, Houghton JA, Glennon M, Lavery R, Smith T, Nolan A, Maher 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 . International Journal of Andrology . 25 . 1 . 59–64 . Feb 2002 . 11869379 . 10.1046/j.1365-2605.2002.00326.x . free .

Notes and References

1. Web site: Entrez Gene: DAZ1 deleted in azoospermia 1.
2. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O . Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene . Nature Genetics . 10 . 4 . 383–93 . Aug 1995 . 7670487 . 10.1038/ng0895-383 . 2917750 .
3. Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH . Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1 . Genomics . 65 . 3 . 266–73 . May 2000 . 10857750 . 10.1006/geno.2000.6169 .
4. Ruggiu M, Cooke HJ . In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein . Gene . 252 . 1–2 . 119–26 . Jul 2000 . 10903443 . 10.1016/S0378-1119(00)00219-5 .