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OMIA 002296-9615 : XY DSD (Disorder of Sexual Development), NR6A1-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 617480 , 612965 , 613957

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

History: Nowacka-Woszuk et al. (2020): "This is the first mutation in the NR5A1 [now known as NR6A1] gene leading to XY DSD phenotype to be reported in domestic animals."

Molecular basis: Nowacka-Woszuk et al. (2020) reported "a large deletion consisting of four exons of the NR5A1 gene was identified in a Yorkshire Terrier with a rudimentary penis, hypospadias, bilateral cryptorchidism, and spermatogenesis inactive testes." In NCBI Gene, the canine NR5A1 gene is now (2 November 2020) called NR6A1.

Breed: Yorkshire Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NR6A1 nuclear receptor subfamily 6, group A, member 1 Canis lupus familiaris 9 NC_051813.1 (59147688..59369600) NR6A1 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Yorkshire Terrier XY DSD (Disorder of Sexual Development), NR5A1-related NR6A1 deletion, gross (>20) 9 "a large deletion consisting of four exons of the NR5A1 gene" (Nowacka-Woszuk et al., 2020) 2020 33128907
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Reference


2020 Nowacka-Woszuk, J., Szczerbal, I., Stachowiak, M., Dzimira, S., Nizanski, W., Biezynski, J., Nowak, T., Gogulski, M., Switonski, M. :
Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Anim Reprod Sci 223:106632, 2020. Pubmed reference: 33128907. DOI: 10.1016/j.anireprosci.2020.106632.

Edit History


  • Created by Frank Nicholas on 02 Nov 2020
  • Changed by Frank Nicholas on 02 Nov 2020