Genes and phenotypes of the human Y chromosome

Abstract

By 1959 it was recognized that the gene (or genes) responsible for initiating the human male phenotype were carried on the Y chromosome. But in subsequent years, few phenotypes were associated with the Y chromosome. Recently, using molecular techniques combined with classical genetics, the Y chromosome has been the focus of intensive and productive investigation. Some of the findings are unexpected and have extended our understanding of the functions of the human Y chromosome. The notion that the Y chromosome is largely devoid of genes is changing. At the present, over 20 Y chromosome genes or pseudogenes have been identified or cloned, a number that is rapidly increasing. A high proportion of Y chromosome sequences have been found to be related to X chromosome sequences: the assembly of a complete physical map of the Y chromosome euchromatic region (believed to carry all of the genes) has shown 25% of the region studied to have homology to the X chromosome.3 Several X-homologous genes are located in the X and Y chromosome pairing regions, an area predicted to have shared homology. Surprisingly, some of the Y-encoded genes that lie outside of the X and Y pairing region share high sequence similarity, and in at least one case, functional identity, with genes on the X chromosome.