...Lisa De Lorenzi; Barbara Banco; Carlo Previderè; Stefania Bonacina; Stefano Romagnoli; Valeria Grieco; Pietro Parma In most mammals, the sex of an individual is genetically determined by the Y chromosome-specific SRY gene. The presence of at least one functional copy of this gene determines...

... in the sex-determining region Y ( SRY ) gene which plays a key role in testis-determining pathways. The aim of this study was to investigate the possible pathogenic nature of a novel SRY mutation (p.Y127H) identified in a 46,XY female patient. To determine the effect of this mutation on SRY function, we...

... of the Y-linked Sry gene on 72 females from Western Africa (Guinea, Ivory Coast and Ghana) uncovered 10 sex-reversed females distributed in the 3 countries. This expands our understanding of the geographical distribution and temporal origin (dated at 0.9 mya) of the sex reversal mutation. In addition, we...

... research to identify genes involved in abnormal sex determination and differentiation in the horse. Fluorescence in situ hybridization (FISH) was done on metaphase spreads and interphase nuclei for most of the studied individuals in order to corroborate the PCR findings for the SRY gene or as a way...

... that for most North American species, as previously reported for the European species, multiple copies of the Sry gene exist on the Y chromosome. Furthermore, we have sequenced and analyzed the full sequence of Sry from several European species, showing that the sequence and structure of the gene in this group...

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