The human Y chromosome: function, evolution and disease

The human Y chromosome is strictly paternally inherited and, in most of its length, does not recombine during male meiosis. These features make the Y a very useful genetic marker for different purposes. Zn the last decade, th e Y has been increasingly used to investigate the evolution, migrations and range expansions of modern humans. The possibility to construct highly inf ormative Y chromosome haplotypes has also had a significant impact in foren sic studies and paternity testing. All these studies assume that the Y chro mosome markers used are selectively neutral. However, recent experimental a nd statistical analyses suggest that both positive and negative selection a n acting on the Y chromosome and, consequently, may influence Y chromosome haplotype distribution in the general population. Current data suggest that the effects of selection on patterns of E; chromosome distribution are min imal, however as interest focuses on biological functions of the Y chromoso me which have a major impact on male fitness such as fertility, these assum ptions may be challenged. This review briefly describes the genes and biolo gical functions of the human Y chromosome and its use in disentangling the origin and history of human populations. An overview of the role of selecti on acting on the Y chromosome from the perspective of human population hist ories and disease is given. (C) 2001 Elsevier Science Ireland Ltd. All righ ts reserved.