The study of a hermaphroditic sheep caused by a mutation in the promoter of SRY gene

Bibliographic Details
Title: The study of a hermaphroditic sheep caused by a mutation in the promoter of SRY gene
Authors: Farid Heidari, Mohaddeseh Rahbaran, Asieh Mirzaei, Mehran Mozafari Tabatabaei, Sara Shokrpoor, Frouzandeh Mahjoubi, Mehdi Shams Ara, Vahid Akbarinejad, Faramarz Gharagozloo
Source: Veterinary and Animal Science, Vol 21, Iss , Pp 100308- (2023)
Publisher Information: Elsevier, 2023.
Publication Year: 2023
Collection: LCC:Veterinary medicine
Subject Terms: Disorders sex developments, Mutation, Shal sheep, SRY gene, Veterinary medicine, SF600-1100
More Details: In mammals, sex-determining region Y (SRY) gene plays vital role as a transcription factor to regulate the expression of the genes contributing to development of male genitals. Any mutation disrupting expression of SRY gene can cause disorders of sex development (DSDs).In this study, the examination of a hermaphroditic (female-like) Shal sheep which was referred for infertility is described. Initially, the reproductive system of the sheep was histologically and anatomically assessed. Karyotyping was used to determine the real gender of the animal. Sex hormones including progesterone, estradiol, and testosterone were measured by enzyme-linked immunosorbent assay (ELISA). Eventually, promoter part and SRY gene were sequenced and aligned to detect any potential mutation using NCBI data base.Although anatomical inspection led to identification of uterus, ovary, and enlarged clitoris as well as testes in the sheep, the karyotyping results interestingly revealed that the animal was genetically a male. Although the sheep had both male and female gonads, there were no overt signs of reproductive behavior and gamete production was not observed. Plasma steroid hormone levels were reported to be at basal levels. Additionally, a mutation was detected on the promoter of the SRY gene.In conclusion, the case implies that mutation on the promoter part of SRY gene could disrupt sexual development of the fetus culminating in DSDs in the sheep.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2451-943X
Relation: http://www.sciencedirect.com/science/article/pii/S2451943X2300025X; https://doaj.org/toc/2451-943X
DOI: 10.1016/j.vas.2023.100308
Access URL: https://doaj.org/article/1a1c49b6d3b848c08032fe667c50245c
Accession Number: edsdoj.1a1c49b6d3b848c08032fe667c50245c
Database: Directory of Open Access Journals
More Details
ISSN:2451943X
DOI:10.1016/j.vas.2023.100308
Published in:Veterinary and Animal Science
Language:English