de la Chapelle A, Koo G C, Wachtel S S
Cell. 1978 Nov;15(3):837-42. doi: 10.1016/0092-8674(78)90268-4.
Maleness is normally inherited as a dominant trait (a single copy of the Y chromosome induces testicular differentiation of the embryonic gonad), but our genealogic study of three XX males in one pedigree indicated an autosomal recessive mode of male inheritance. Subsequent study revealed the presence of H-Y antigens in the three XX males and in their mothers, and suggested that excess H-Y may be found in the fathers. Inasmuch as H-Y loci have been mapped to the human Y chromosome, these data favor the view that H-Y structural loci comprise a family of testis-determining genes, and that Y autosome (or Y-X) translocation can generate either dominant or recessive modes of XX sex reversal, depending upon the particular portion of H-Y genes transferred.
男性特征通常作为显性性状遗传（Y染色体的一个拷贝可诱导胚胎性腺分化为睾丸），但我们对一个家系中三名XX男性的系谱研究表明男性遗传为常染色体隐性模式。随后的研究发现这三名XX男性及其母亲体内存在H-Y抗原，并表明其父亲体内可能存在过量的H-Y。由于H-Y基因座已被定位到人类Y染色体上，这些数据支持以下观点：H-Y结构基因座构成了一个睾丸决定基因家族，并且Y常染色体（或Y-X）易位可产生XX性反转的显性或隐性模式，具体取决于所转移的H-Y基因的特定部分。
