Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing.

Autor: Berry DP; Teagasc, Animal & Grassland Research and Innovation Centre, Moorepark, Fermoy, Co. Cork, Ireland., Herman EK; Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada., Carthy TR; Teagasc, Animal & Grassland Research and Innovation Centre, Moorepark, Fermoy, Co. Cork, Ireland., Jennings R; School of Biosciences, University of Kent, Canterbury, UK., Bandi-Kenari N; Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada., O'Connor RE; School of Biosciences, University of Kent, Canterbury, UK., Mee JF; Teagasc, Animal & Grassland Research and Innovation Centre, Moorepark, Fermoy, Co. Cork, Ireland., O'Donovan J; Department of Agriculture, Food and the Marine, Regional Veterinary Laboratory, Cork, Ireland., Mathews D; Irish Cattle Breeding Federation, Ballincollig, Co. Cork, Ireland., Stothard P; Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada.
Jazyk: angličtina
Zdroj: Animal genetics [Anim Genet] 2023 Apr; Vol. 54 (2), pp. 93-103. Date of Electronic Publication: 2022 Dec 12.
DOI: 10.1111/age.13280
Abstrakt: Swyer syndrome is where an individual has the karyotype of a typical male yet is phenotypically a female. The lack of a (functional) SRY gene located on the Y-chromosome is implicated in some cases of the Swyer syndrome, although many Swyer individuals with an apparently fully functional SRY gene have also been documented. The present study undertook whole genome sequence analyses of eight cattle with suspected Swyer syndrome and compared their genome to that of both a control male and female. Sequence analyses coupled with female phenotypes confirmed that all eight individuals had the 60,XY sex reversal Swyer syndrome. Seven of the eight Swyer syndrome individuals had a deletion on the Y chromosome encompassing the SRY gene (i.e., SRY-). The eighth individual had no obvious mutation in the SRY gene (SRY+) or indeed in any reported gene associated with sex reversal in mammals; a necropsy was performed on this individual. No testicles were detected during the necropsy. Histological examination of the reproductive tract revealed an immature uterine body and horns with inactive glandular tissue of normal histological appearance; both gonads were elongated, a characteristic of most reported cases of Swyer in mammals. The flanking sequence of 11 single nucleotide polymorphisms within 10 kb of the SRY gene are provided to help diagnose some cases of Swyer syndrome. These single nucleotide polymorphisms will not, however, detect all cases of Swyer syndrome since, as evidenced from the present study (and other studies), some individuals with the Swyer condition still contain the SRY gene (i.e., SRY+).
(© 2022 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje