- DAZL
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Deleted in azoospermia-like Identifiers Symbols DAZL; DAZH; DAZL1; DAZLA; MGC26406; SPGYLA External IDs OMIM: 601486 HomoloGene: 1034 GeneCards: DAZL Gene Gene Ontology Molecular function • nucleotide binding
• RNA binding
• protein binding
• translation activator activityCellular component • nucleus
• cytoplasmBiological process • regulation of translation
• multicellular organismal development
• germ cell development
• spermatogenesis
• cell differentiation
• positive regulation of translational initiationSources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 1618 n/a Ensembl ENSG00000092345 n/a UniProt Q92904 n/a RefSeq (mRNA) NM_001190811.1 n/a RefSeq (protein) NP_001177740.1 n/a Location (UCSC) Chr 3:
16.63 – 16.71 Mbn/a PubMed search [1] n/a Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.[1]
The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males.[2]
Interactions
DAZL has been shown to interact with DAZ1.[3][4]
References
- ^ Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Dec 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.
- ^ "Entrez Gene: DAZL deleted in azoospermia-like". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1618.
- ^ Ruggiu, M; Cooke H J (Jul. 2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene (NETHERLANDS) 252 (1-2): 119–26. doi:10.1016/S0378-1119(00)00219-5. ISSN 0378-1119. PMID 10903443.
- ^ Tsui, S; Dai T, Roettger S, Schempp W, Salido E C, Yen P H (May. 2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics (UNITED STATES) 65 (3): 266–73. doi:10.1006/geno.2000.6169. ISSN 0888-7543. PMID 10857750.
Further reading
- Shan Z, Hirschmann P, Seebacher T, et al. (1997). "A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad.". Hum. Mol. Genet. 5 (12): 2005–11. doi:10.1093/hmg/5.12.2005. PMID 8968755.
- 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. doi:10.1093/hmg/5.12.2013. PMID 8968756.
- Seboun E, Barbaux S, Bourgeron T, et al. (1997). "Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene.". Genomics 41 (2): 227–35. doi:10.1006/geno.1997.4635. PMID 9143498.
- Ruggiu M, Speed R, Taggart M, et al. (1997). "The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis.". Nature 389 (6646): 73–7. doi:10.1038/37987. PMID 9288969.
- Chai NN, Phillips A, Fernandez A, Yen PH (1998). "A putative human male infertility gene DAZLA: genomic structure and methylation status.". Mol. Hum. Reprod. 3 (8): 705–8. doi:10.1093/molehr/3.8.705. PMID 9294855.
- 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. doi:10.1093/hmg/7.9.1371. PMID 9700189.
- Nishi S, Hoshi N, Kasahara M, et al. (1999). "Existence of human DAZLA protein in the cytoplasm of human oocytes.". Mol. Hum. Reprod. 5 (6): 495–7. doi:10.1093/molehr/5.6.495. PMID 10340994.
- Slee R, Grimes B, Speed RM, et al. (1999). "A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype.". Proc. Natl. Acad. Sci. U.S.A. 96 (14): 8040–5. doi:10.1073/pnas.96.14.8040. PMC 22184. PMID 10393944. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22184.
- Dorfman DM, Genest DR, Reijo Pera RA (1999). "Human DAZL1 encodes a candidate fertility factor in women that localizes to the prenatal and postnatal germ cells.". Hum. Reprod. 14 (10): 2531–6. doi:10.1093/humrep/14.10.2531. PMID 10527983.
- Tsai MY, Chang SY, Lo HY, et al. (2000). "The expression of DAZL1 in the ovary of the human female fetus.". Fertil. Steril. 73 (3): 627–30. doi:10.1016/S0015-0282(99)00544-0. PMID 10689024.
- Brekhman V, Itskovitz-Eldor J, Yodko E, et al. (2000). "The DAZL1 gene is expressed in human male and female embryonic gonads before meiosis.". Mol. Hum. Reprod. 6 (5): 465–8. doi:10.1093/molehr/6.5.465. PMID 10775651.
- Ruggiu M, Saunders PT, Cooke HJ (2000). "Dynamic subcellular distribution of the DAZL protein is confined to primate male germ cells.". J. Androl. 21 (3): 470–7. PMID 10819456.
- Tsui S, Dai T, Warren ST, et al. (2000). "Association of the mouse infertility factor DAZL1 with actively translating polyribosomes.". Biol. Reprod. 62 (6): 1655–60. doi:10.1095/biolreprod62.6.1655. PMID 10819768.
- 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. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.
- 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. doi:10.1095/biolreprod63.5.1490. PMID 11058556.
- 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. PMC 34683. PMID 11390979. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=34683.
- Van Golde RJ, Tuerlings JH, Kremer JA, et al. (2002). "DAZLA: an important candidate gene in male subfertility?". J. Assist. Reprod. Genet. 18 (7): 395–9. doi:10.1023/A:1016678624225. PMID 11499325.
- Lin YM, Chen CW, Sun HS, et al. (2002). "Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men.". Mol. Hum. Reprod. 7 (11): 1015–22. doi:10.1093/molehr/7.11.1015. PMID 11675467.
Categories:- Human proteins
- Chromosome 3 gene stubs
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