Mapping the Locus of the H-Y Gene on the Human Y Chromosome

Abstract

The H-Y locus is on the short arm of the human Y chromosome in most individuals but on the long arm in at least one of 17 individuals with structural abnormalities of the Y.

H-Y antigen studies in thirty patients with abnormal gonadal differentiation: Correlations among sex chromosome complement, H-Y antigen, and gonadal type

“…arm of the Y chromosome (Koo et al, 1977), present results of Cases 21-23 and 26 supporting this, coincidence between the presence of Y chromosome and the presence of H-Y antigen or testis in the gonad is well explained. When this coincidence is disturbed by mutation, various forms of intersexuality come out.…”

Report of the committee on the genetic constitution of the X and Y chromosomes

“…The HYA locus generally has a short-arm location (Koo et al. 1977;R ary et al, 1979;Ro s in iil d et al, 1979;FaGGIano et al, 1980), although in one case a position on the proximal part of the long arm was suggested (Koo et al, 1977). A short arm location fits with data suggesting X-Y interchange as the etiolog ical factor in some XX males (W achtil et al.…”

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

“…2 3 Evidence for a testis-determining locus on the Y chromosome comes from the serological detection of H-Y antigen, a cell surface component determined by phylogenetically conserved genes normally situated in the pericentric region of the human Y. 4 Not only is H-Y antigen found in the heterogametic sex (XY) of all vertebrate species examined so far,5 but its presence is associated with differentiation of the mammalian testis or ovotestis regardless of apparent karyotype (reviewed in Wachtel and Received for publication 5 13 (reviewed in Wachtel and Ohno5a). Here we report the investigation of two related H-Y negative 46,XY females both with duplication of a portion of the X short arm, thereby R Bernstein, T Jenkins, B Dawson, J Wagner, G Dewald, G C Koo, and S S Wachtel providing further evidence for the existence of regulatory elements of the X and further elucidation of the effects of disomy of the X short arm.14 Case report A 3-year-old girl (fig 1, III.2) was referred for investigation of congenital abnormalities associated with profound mental retardation.…”