DAZL

DAZL
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	2XS2, 2XS5, 2XS7, 2XSF
Identifiers
Aliases	DAZL , DAZH, DAZL1, DAZLA, SPGYLA, deleted in azoospermia like
External IDs	OMIM: 601486 HomoloGene: 1034 GeneCards: DAZL
Gene location (Human)
Chr.	Chromosome 3 (human)
End	16,670,306 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; sperm; ; appendix; ; metanephros; ; lymph node; ; muscle tissue; ; rectum; ; duodenum; ; placenta;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleic acid binding ; protein binding ; RNA binding ; translation activator activity ; identical protein binding ; mRNA 3'-UTR binding ; mRNA binding ;
Cellular component	nucleus ; polysome ; cytoplasm ; intracellular anatomical structure ; protein-containing complex ;
Biological process	multicellular organism development ; cell differentiation ; regulation of translation ; spermatogenesis ; oocyte maturation ; female meiosis II ; germ cell development ; positive regulation of meiotic nuclear division ; positive regulation of translational initiation ; 3'-UTR-mediated mRNA stabilization ;
	Sources:Amigo / QuickGO
Orthologs
	1618
	n/a
	ENSG00000092345
	n/a
	Q92904
	n/a
	NM_001351 ; NM_001190811
	n/a
	NP_001177740 ; NP_001342
	n/a
	Wikidata
View/Edit Human

Last updated December 23, 2023

Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.^[3]

Function

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.^[4]

In mice and pigs deficient in DAZL, PGCs migrate to the gonad but do not undertake germ cell determination, and may instead produce germ cell tumors.^[5]

Interactions

DAZL has been shown to interact with DAZ1.^[6]^[7]

Related Research Articles

A germ cell is any cell that gives rise to the gametes of an organism that reproduces sexually. In many animals, the germ cells originate in the primitive streak and migrate via the gut of an embryo to the developing gonads. There, they undergo meiosis, followed by cellular differentiation into mature gametes, either eggs or sperm. Unlike animals, plants do not have germ cells designated in early development. Instead, germ cells can arise from somatic cells in the adult, such as the floral meristem of flowering plants.

In developmental biology, the cells that give rise to the gametes are often set aside during embryonic cleavage. During development, these cells will differentiate into primordial germ cells, migrate to the location of the gonad, and form the germline of the animal.

The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling the activity of genes related to the reproductive glands or gonads and adrenal glands. This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3. It was originally identified as a regulator of genes encoding cytochrome P450 steroid hydroxylases, however, further roles in endocrine function have since been discovered.

The germ cell nuclear factor (GCNF), also known as RTR or NR6A1, is a protein that in humans is encoded by the NR6A1 gene. GCNF is a member of the nuclear receptor family of intracellular transcription factors.

Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.

Protein delta homolog 1, delta like non-canonical Notch ligand 1, fetal antigen 1 or preadipocyte factor 1 is a protein that in humans is encoded by the DLK1 gene.

Ubiquitin specific peptidase 9, Y-linked , also known as USP9Y, is an enzyme which in humans is encoded by the USP9Y gene. It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.

Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.

Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.

DAZ-associated protein 1 is a protein that in humans is encoded by the DAZAP1 gene.

Pumilio homolog 2 is an RNA-binding protein that in humans is encoded by the PUM2 gene.

RNA-binding motif protein, Y chromosome, family 1 member A1/C is a protein that in humans is encoded by the RBMY1A1 gene.

Protein boule-like is a protein that in humans is encoded by the BOLL gene.

DAZ-associated protein 2 is a protein that in humans is encoded by the DAZAP2 gene.

Zinc finger protein DZIP1 is a protein that in humans is encoded by the DZIP1 gene.

Folliculogenesis-specific basic helix-loop-helix, also known as factor in the germline alpha (FIGalpha) or transcription factor FIGa, is a protein that in humans is encoded by the FIGLA gene. The FIGLA gene is a germ cell-specific transcription factor preferentially expressed in oocytes that can be found on human chromosome 2p13.3.

The DAZprotein family is a group of three highly conserved RNA-binding proteins that are important in gametogenesis and meiosis. Therefore, mutations in the genes that encode for the DAZ proteins can have detrimental consequences for fertility.

Protamine 1 is a protein that in humans is encoded by the PRM1 gene.

Spermatogenesis-associated protein 16 is a mammalian protein encoded by the SPATA16 gene. SPATA16, also known as NYD-SP12, is a developmental protein that aids in differentiation of germ cells for spermatogenesis and participates in acrosome formation for appropriate sperm-egg fusion. SPATA16 is located on chromosome 3 at position 26.31 and is a member of the tetratricopeptide repeat-like superfamily, which facilitate interactions and assemblies between proteins and protein complexes.

The germ cell nest forms in the ovaries during their development. The nest consists of multiple interconnected oogonia formed by incomplete cell division. The interconnected oogonia are surrounded by somatic cells called granulosa cells. Later on in development, the germ cell nests break down through invasion of granulosa cells. The result is individual oogonia surrounded by a single layer of granulosa cells. There is also a comparative germ cell nest structure in the developing spermatogonia, with interconnected intracellular cytoplasmic bridges.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000092345 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Nov 1996). "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. doi:10.1038/ng1196-292. PMID 8896558. S2CID 34964224.
↑ "Entrez Gene: DAZL deleted in azoospermia-like".
↑ Nicholls PK, Schorle H, Naqvi S, Hu Y, Fan Y, Carmell MA, Dobrinski I, Watson AL, Carlson DF, Fahrenkrug SC, Page DC (2019-11-21). "Mammalian germ cells are determined after PGC colonization of the nascent gonad". Proceedings of the National Academy of Sciences. 116 (51): 25677–25687. Bibcode:2019PNAS..11625677N. doi: 10.1073/pnas.1910733116 . ISSN 0027-8424. PMC 6925976 . PMID 31754036.
↑ Ruggiu M, Cooke HJ (Jul 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.
↑ Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 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.

Shan Z, Hirschmann P, Seebacher T, Edelmann A, Jauch A, Morell J, Urbitsch P, Vogt PH (Dec 1996). "A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad". Human Molecular Genetics. 5 (12): 2005–11. doi: 10.1093/hmg/5.12.2005 . PMID 8968755.
Yen PH, Chai NN, Salido EC (Dec 1996). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Human Molecular Genetics. 5 (12): 2013–7. doi: 10.1093/hmg/5.12.2013 . PMID 8968756.
Seboun E, Barbaux S, Bourgeron T, Nishi S, Agulnik A, Egashira M, Nikkawa N, Bishop C, Fellous M, McElreavey K, Kasahara M, Algonik A (Apr 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, McKay SJ, Kilanowski F, Saunders P, Dorin J, Cooke HJ (Sep 1997). "The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis". Nature. 389 (6646): 73–7. Bibcode:1997Natur.389...73R. doi:10.1038/37987. PMID 9288969. S2CID 8809115.
Chai NN, Phillips A, Fernandez A, Yen PH (Aug 1997). "A putative human male infertility gene DAZLA: genomic structure and methylation status". Molecular Human Reproduction. 3 (8): 705–8. doi:10.1093/molehr/3.8.705. PMID 9294855. S2CID 3489111.
Agulnik AI, Zharkikh A, Boettger-Tong H, Bourgeron T, McElreavey K, Bishop CE (Sep 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". Human Molecular Genetics. 7 (9): 1371–7. doi: 10.1093/hmg/7.9.1371 . PMID 9700189.
Nishi S, Hoshi N, Kasahara M, Ishibashi T, Fujimoto S (Jun 1999). "Existence of human DAZLA protein in the cytoplasm of human oocytes". Molecular Human Reproduction. 5 (6): 495–7. doi: 10.1093/molehr/5.6.495 . PMID 10340994.
Slee R, Grimes B, Speed RM, Taggart M, Maguire SM, Ross A, McGill NI, Saunders PT, Cooke HJ (Jul 1999). "A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype". Proceedings of the National Academy of Sciences of the United States of America. 96 (14): 8040–5. Bibcode:1999PNAS...96.8040S. doi: 10.1073/pnas.96.14.8040 . PMC 22184 . PMID 10393944.
Dorfman DM, Genest DR, Reijo Pera RA (Oct 1999). "Human DAZL1 encodes a candidate fertility factor in women that localizes to the prenatal and postnatal germ cells". Human Reproduction. 14 (10): 2531–6. doi: 10.1093/humrep/14.10.2531 . PMID 10527983.
Tsai MY, Chang SY, Lo HY, Chen IH, Huang FJ, Kung FT, Lu YJ (Mar 2000). "The expression of DAZL1 in the ovary of the human female fetus". Fertility and Sterility. 73 (3): 627–30. doi: 10.1016/S0015-0282(99)00544-0 . PMID 10689024.
Brekhman V, Itskovitz-Eldor J, Yodko E, Deutsch M, Seligman J (May 2000). "The DAZL1 gene is expressed in human male and female embryonic gonads before meiosis". Molecular Human Reproduction. 6 (5): 465–8. doi: 10.1093/molehr/6.5.465 . PMID 10775651. S2CID 17223133.
Ruggiu M, Saunders PT, Cooke HJ (2000). "Dynamic subcellular distribution of the DAZL protein is confined to primate male germ cells". Journal of Andrology. 21 (3): 470–7. doi:10.1002/j.1939-4640.2000.tb03403.x. PMID 10819456.
Tsui S, Dai T, Warren ST, Salido EC, Yen PH (Jun 2000). "Association of the mouse infertility factor DAZL1 with actively translating polyribosomes". Biology of Reproduction. 62 (6): 1655–60. doi: 10.1095/biolreprod62.6.1655 . PMID 10819768.
Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 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 (Jul 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, Renshaw AA, Loughlin KR, Cooke H, Page DC (Nov 2000). "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. doi: 10.1095/biolreprod63.5.1490 . PMID 11058556.
Xu EY, Moore FL, Pera RA (Jun 2001). "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. Bibcode:2001PNAS...98.7414Y. doi: 10.1073/pnas.131090498 . PMC 34683 . PMID 11390979.
Van Golde RJ, Tuerlings JH, Kremer JA, Braat DD, Schoute F, Hoefsloot LH (Jul 2001). "DAZLA: an important candidate gene in male subfertility?". Journal of Assisted Reproduction and Genetics. 18 (7): 395–9. doi:10.1023/A:1016678624225. PMC 3455824 . PMID 11499325.
Lin YM, Chen CW, Sun HS, Tsai SJ, Hsu CC, Teng YN, Lin JS, Kuo PL (Nov 2001). "Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men". Molecular Human Reproduction. 7 (11): 1015–22. doi: 10.1093/molehr/7.11.1015 . PMID 11675467.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000092345 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8896558-3] Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Nov 1996). "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. doi:10.1038/ng1196-292. PMID 8896558. S2CID 34964224.

[entrez-4] "Entrez Gene: DAZL deleted in azoospermia-like".

[5] Nicholls PK, Schorle H, Naqvi S, Hu Y, Fan Y, Carmell MA, Dobrinski I, Watson AL, Carlson DF, Fahrenkrug SC, Page DC (2019-11-21). "Mammalian germ cells are determined after PGC colonization of the nascent gonad". Proceedings of the National Academy of Sciences. 116 (51): 25677–25687. Bibcode:2019PNAS..11625677N. doi: 10.1073/pnas.1910733116 . ISSN 0027-8424. PMC 6925976 . PMID 31754036.

[pmid10903443-6] Ruggiu M, Cooke HJ (Jul 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.

[pmid10857750-7] Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (May 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.

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DAZL

Contents

Function

Interactions

Related Research Articles

References

Further reading