Y chromosome polymorphisms in medicine.
Ninety-five percent of the length of the human Y chromosome is inherited as a single block in linkage from father to male offspring as a haploid entity. Thus, the Y chromosome represents an invaluable record of all mutations that have occurred along male lineages throughout evolution. For this reason, Y chromosomal DNA variation has been mainly used for investigations on human evolution and for forensic purposes or paternity analysis. Recently, Y chromosomal polymorphisms have been applied in molecular medicine from the perspective of male-specific (spermatogenic failure, testis and prostate cancer) and prevalently male-associated (hypertension, autism) diseases. The absence of recombination on the MSY (male-specific Y) region means that polymorphisms, located in this region, are in tight association with potential functional variations associated with Y-linked phenotypes. Thus, an indirect way to explore if Y chromosome genes are involved in the etiology of a specific disease is the definition of Y chromosome haplogroups in patients versus disease-free and/or the general population. Data on patients with reduced sperm count and prostate cancer indicate that the 'at risk Y haplogroup' may be different in different populations. The situation is rather contradictory for other male-specific or male-associated diseases and further multicenter--possibly multiethnic--studies are needed.
Krausz
Csilla
C
Department of Clinical Physiopathology, University of Florence, Florence, Italy. c.krausz@dfc.unifi.it
Quintana-Murci
Lluis
L
Forti
Gianni
G
D001321:Autistic Disorder / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D056426:Genetic Loci; D014644:Genetic Variation; D006801:Humans; D006973:Hypertension / Q000235:genetics; D008297:Male; D009845:Oligospermia / Q000235:genetics; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics
D029589:Seminal Plasma Proteins