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Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

100%

Soardi F. C. , Borchers C. F. , Maciel-Guerra A. T. , Guerra-Junior G. , Palandi d. M. M.

Journal of Applied Genetics

2010

tom 51

nr 2

223-224

The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal STY and no adrenal failure.

Unique variations of SRY gene result in distinct patrilineal phylogeny of Capra hircus and other domestic Bovidae

84%

Cai X. , Zhang H. , Mipam T. D.

Animal Science Papers and Reports

2013

tom 31

nr 3

Patrilineal phylogeny of Beichuan White goat and other domestic Bovidae was inferred from 5´-UTR and coding region of SRY gene. Variation analysis revealed 208 variable sites, meanwhile, a 50-bp fragment inserted downstream of the initiation codon (ATG) of SRY genes modified the translational initiation process in Bos and Bubalus, while the mechanism of what should be explained in a further study. Amino acid sequence alignments of HMG-box region indicated a high degree of conservation among goats and other Bovidae. All the sequences of Bovidae clustered into Bos,Bubalus and Capra. Bos indicus, Bos taurus, Bos javanicus, Bos frontalis, Bos grunniens and Bison bonasus were comprised in genus Bos, while Bubalus bubalis and Syncerus caffer belonged to genus Bubalus. Beichuan white goats and other Capra hircus specimens were clustered into genus Capra.Patrilineal phylogeny of Bovidae exhibited a discrepancy from the earlier matrilineal analysis.

Polymorphism of the CTNNB1 and FOXL2 genes is not associated with canine XX testicular/ovotesticular disorder of sex development

84%

Salamon S. , Nowacka-Woszuk J. , Switonski M.

Folia Biologica

2015

tom 63

nr 1

Differentiated evolutionary conservatism and lack of polymorphism of crucial sex determination genes [SRY and SOX9] in four species of the family Canidae

67%

Nowacka-Woszuk J. , Switonski M.

tom 57

nr 3-4

171-176