SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY k...

Although the sex-determining gene SRY/Sry has been identified in mammals, homologues and genes that have a similar function have yet to be identified in nonmammalian vertebrates. Recently, DMY (the DM-domain gene on the Y chromosome) was cloned from the sex-determining region on the Y chromosome of the teleost fish medaka (Oryzias latipes). DMY has been shown to be required for the normal devel...

Sex determination refers to the decision of the bipotential early gonads to develop as either testes or ovaries during embryogenesis. In mammals, a single genetic trigger involved in this pivotal decision has been identified on the Y chromosome: the testis-determining gene SRY/Sry. During embryogenesis, SRY triggers the differentiation of Sertoli cells from the supporting cell precursor lineage...

A total of 42,197 records of test-day milk yield (TDY) and 7654 lactations from 3854 individuals belonging to the Spanish Assaf Assaf.E) breed were analysed using univariate and multivariate models to estimate genetic parameters affecting TDY, total milk ield standardised to 180 days (MY180) and lactation length (LL) in order to asses their possibilities of use in the selection scheme f the Ass...

Background In mammals, a single exon gene SRY on the Y-chromosome is activated in the XY gonadal primordium and initiates a cascade of molecular and morphological events leading to testicular differentiation. SRY-encoded protein (SRY) is a transcription factor harboring a HMG-box DNAbinding motif that upregulates SOX9, which encodes another transcription factor sharing the DNA binding motif wit...

The Y chromosome from certain populations of M. m. domesticus is incapable of normal testis determination in the B6 inbred strain resulting in XY hermaphrodites or XY females (XY(DOM) sex reversal). B6 consomic strains have been developed with either transient (B6-Y(AKR)) or severe (B6-Y(TIR)) XY(DOM) sex reversal. We report that a point mutation, the dominant white spotting oncogene allele, Ki...

In order to distinguish Korean cattle (Hanwoo) beef from the imported beef from Australia in Korean markets, DNA markers based on PCR-RFLP from mitochondrial genes and SRY gene were applied. A total of 2,826 beef samples comprising 1,495 Hanwoo and 1,331 foreign cattle breeds were obtained in Korea. An 801 bp fragment of the SRY gene on the bovine Y chromosome, a 343 bp fragment of ND4 gene and...