- Human pathology

Home > A. Molecular pathology > DAZL


3p24 Entrez:1618 MIM.601486 HGNC:2685

Sunday 26 May 2013


Definition: Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.

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 DAZL have been linked to severe spermatogenic failure and infertility in males.

- SNPs at 3p24.3 shows association with TGCT (23666240)

  • SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) show association with TGCT (P @<@ 5 × 10-8), which together account for an additional 4-6% of the familial risk of TGCT.
  • The loci include genes plausibly related to TGCT development as PRDM14, at 8q13.3, is essential for early germ cell specification, and DAZL, at 3p24.3, is required for the regulation of germ cell development.
  • PITX1, at 5q31.1, regulates TERT expression and is the third TGCT-associated locus implicated in telomerase regulation.


- Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. Ruark E, Seal S, McDonald H, Zhang F, Elliot A, Lau K, Perdeaux E, Rapley E, Eeles R, Peto J, Kote-Jarai Z, Muir K, Nsengimana J, Shipley J; UK Testicular Cancer Collaboration (UKTCC), Bishop DT, Stratton MR, Easton DF, Huddart RA, Rahman N, Turnbull C. Nat Genet. 2013 May 12. doi : 10.1038/ng.2635 PMID: 23666240