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Renée Bernstein, MB, BCh

JAMA. 1981;245(19):1953-1956.

Abstract
The mammalian Y chromosome plays a dominant role in initiating fetal testicular differentiation. Testicular differentiating genes on the Y chromosome can be serologically detected as H-Y antigen. The correlation of numerical and structural abnormalities of the X and Y chromosomes, combined with H-Y antigen reactivity, gonadal histology, and phenotype, has contributed to mapping the locus of these genes on the Y chromosome and has elucidated some of the mechanisms responsible for anomalous primary sexual differentiation. The causes for failure of gonadal differentiation despite the presence of a Y chromosome or for testicular differentiation in the absence of a detectable Y are discussed. Evidence is presented for genes on the X chromosome that regulate the activity of testicular differentiating genes on the Y chromosome.

(JAMA 1981;245:1953-1956)

Author Affiliations
From the Department of Human Genetics, School of Pathology, the South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa.

Footnotes
Reprint requests to Department of Human Genetics, University of the Witwatersrand, PO Box 1038, Johannesburg 2000, South Africa (Dr Bernstein).

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