Article
Mutations in the RSPO1 coding region are not the main cause of canine SRY-negative XX sex reversal in several breeds.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2008
De Lorenzi L, Groppetti D, Arrighi S, Pujar S, Nicoloso L, Molteni L, Pecile A, Cremonesi F, Parma P, Meyers-Wallen V
Abstract excerpt
This report details a case of SRY-negative XX sex reversal in a mixed breed dog and surveys affected dogs of several breeds for mutations in RSPO1 coding regions. Genomic DNA from the mixed breed case was evaluated for mutations in candidate genes. Sequencing identified a homozygous G to A transition in RSPO1 exon 4 that changes a highly conserved amino acid codon in the thrombospondin domain. The possibility...
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