DAZ3
| Deleted in azoospermia 3 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | DAZ3 ; MGC126441; pDP1679 | ||||||||||
| External IDs | Template:OMIM5 HomoloGene: 88868 | ||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Deleted in azoospermia 3, also known as DAZ3, is a human gene.[1]
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.[1]
References
Further reading
- 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. PMID 11694340.
- 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. PMID 12752250.
- 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.
- 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. 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.
- 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. 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. PMID 9321470.
- 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. 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. PMID 10903443.
- Saxena R, de Vries JW, Repping S; et al. (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; 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. 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. 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. doi:10.1073/pnas.131090498. 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. 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. PMID 11883873.
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