rs8179021
This is a intron variant variant in the DDX3Y gene.
▶Research that mentions this SNP (2)
▶Forensic use of Y-chromosome DNA: a general overviewReviewManfred Kayser et al.(2017)· Human Genetics
A comprehensive review of forensic applications of Y-chromosome DNA analysis, including Y-STR haplotyping for paternal lineage identification, paternity and kinship testing, familial searching, and bio-geographic ancestry inference. The paper illustrates these applications through the 14-year investigation of the 1999 Marianne Vaatstra murder case in the Netherlands, which was solved using Y-STR-based DNA dragnet and familial searching. The review discusses various Y-STR markers (9-27 loci), rapidly mutating Y-STRs for better discrimination, Y-SNP haplogroups for ancestry inference, and future directions in forensic Y-chromosome analysis.
▶Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestryAssociationN=7,810Wang Z. et al.(2012)· Human Genetics
Two-phase association study examining Y chromosome haplogroups and prostate cancer risk in 3,995 cases and 3,815 controls (Stage I) with replication in 1,272 European and 1,686 Ashkenazi Jewish cases. The rare E1b1b1c haplogroup showed nominally significant association with prostate cancer overall (P=0.012, OR=0.51; 95% CI 0.30-0.87) in Stage I, with meta-analysis of stages I and II revealing a nominally significant association with prostate cancer risk (P=0.010, OR=0.77; 95% CI 0.62-0.94).
About DDX3Y
The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
View all DDX3Y variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…