Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome.
The origin of modern humans can be traced by comparing polymorphic sites in either mitochondria or genomic sequences between humans and other primates. The human Y chromosome has both a non-recombining region and X-Y homologous pseudo-autosomal regions. In the nonrecombining region events during evolution can be directly detected. At least a part of homology between Xq21 and Yp11 is a result of rather recent translocations from the X chromosome to the Y chromosome. DNA markers residing in the nonrecombining region of the human Y chromosome are potentially useful in tracing male-specific gene flow in human evolution. However, the number of available markers in the region is limited. Here, we report a novel X-Y homologous (CA)n repeat locus in the nonrecombining region of the Y chromosome. This marker, DXYS241, has several interesting features. Y- and X-chromosome alleles are distinguishable because the Y-chromosome alleles are shorter than the X-chromosome alleles most of the time. We developed 2 primer sets for specific examination of Y- and X-chromosome alleles. The marker should be useful in establishing relationships between populations based on patrilineal gene flow. Sequences homologous to DXYS241 are also found on the X chromosome of primates. Four events during primate evolution that led to the modern human Y chromosome were identified.
Kotliarova
S E
SE
Department of Human Genetics, Graduate School of International Health, Faculty of Medicine, University of Tokyo, Japan.
Toda
T
T
Takenaka
O
O
Matsushita
I
I
Hida
A
A
Shinka
T
T
Goto
J
J
Tokunaga
K
K
Nakagome
Y
Y
Nakahori
Y
Y
D000483:Alleles; D000818:Animals; D044466:Asian People / Q000235:genetics; D005075:Biological Evolution; D044383:Black People / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D002679:Pan troglodytes / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D011148:Pongo pygmaeus / Q000235:genetics; D017385:Sequence Homology; D014178:Translocation, Genetic / Q000235:genetics*; D044465:White People / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics*
D005819:Genetic Markers