DAZL

Protein-coding gene in the species Homo sapiens

DAZL

| Available structures

PDB| Ortholog 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; MGI: 1342328; HomoloGene: 1034; GeneCards: DAZL; OMA:DAZL - orthologs
| Gene location (Human)

Chr.| Chromosome 3 (human)[1]

Band| 3p24.3| Start| 16,586,792 bp[1]
End| 16,670,306 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 17 (mouse)[2]

Band| 17 C|17 25.86 cM| Start| 50,586,423 bp[2]
End| 50,600,664 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* oocyte

* secondary oocyte

* gonad

* right testis

* left testis

* sperm

* testicle

* appendix

* metanephros

* lymph node

| Top expressed in

* spermatocyte

* spermatid

* egg cell

* Gonadal ridge

* secondary oocyte

* zygote

* primary oocyte

* seminiferous tubule

* ovary

* morula

More reference expression data
BioGPS| |

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

Species| Human| Mouse
Entrez| |

1618

13164

Ensembl| |

ENSG00000092345

ENSMUSG00000010592

UniProt| |

Q92904

Q64368

RefSeq (mRNA)| |

NM_001351
NM_001190811

NM_001277863
NM_010021

RefSeq (protein)| |

NP_001177740
NP_001342

NP_001264792
NP_034151

Location (UCSC)| Chr 3: 16.59 – 16.67 Mb| Chr 17: 50.59 – 50.6 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.[5]

## Function

[edit]

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.[6]

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.[7]

## Interactions

[edit]

DAZL has been shown to interact with DAZ1.[8][9]

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000092345 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010592 - Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ 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.
6. ^ "Entrez Gene: DAZL deleted in azoospermia-like".
7. ^ Nicholls PK, Schorle H, Naqvi S, Hu YC, 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.
8. ^ 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 10903443.1–2&rft.pages=119-26&rft.date=2000-07&rft_id=info:doi/10.1016/S0378-1119(00)00219-5&rft_id=info:pmid/10903443&rft.aulast=Ruggiu&rft.aufirst=M&rft.au=Cooke,+HJ&rfr_id=info:sid/en.wikipedia.org:DAZL" class="Z3988">
9. ^ 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.

## Further reading

[edit]

* 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 10903443.1–2&rft.pages=119-26&rft.date=2000-07&rft_id=info:doi/10.1016/S0378-1119(00)00219-5&rft_id=info:pmid/10903443&rft.aulast=Ruggiu&rft.aufirst=M&rft.au=Cooke,+HJ&rfr_id=info:sid/en.wikipedia.org:DAZL" class="Z3988">
* 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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