Abstract
Two homogenous sequences of 47z (DXYS5) are located on the X (DXYS5X) and Y (DXYS5Y) chromosomes, and these are known to be useful polymorphic markers for tracing male-specific gene flow such as the migration routes of human populations. Using the 47z/StuI PCR–RFLP system, we found a novel allele which showed two bands, in contrast to the previous two allele types, one band (Y1) and three bands (Y2). This means that copies of PCR products derived from both the DXYS5X and DXYS5Y loci were clearly cut by the StuI enzyme, implying that the DXYS5X locus of the X chromosome is polymorphic. Allelic frequencies examined in 267 male Korean individuals showed that 95.8% had Y1, 3.4% Y2, and 0.8% had the novel allele. Our findings should contribute to a better understanding of genetic polymorphism on X and Y chromosomes, the molecular evolution mechanism of sex chromosomes, and how the migration route of Koreans is related to those of other East Asian populations.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Hammer MF, Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56:951–965
Jobling MA, Chris T-S (2003) The human Y chromosome: an evolutionary marker comes of age. Nature 4:599–612
Kim W, Shin DJ, Harihara S, Kim YJ (2000) Y chromosomal DNA variation in East Asian population and its potential for inferring the peopling of Korea. J Hum Genet 45:76–83
Lin SJ, Tanaka K, Leonard W, Gerelsaikhan T, Dashnyam B, Nyamkhishig S, Hida A, Nakahori Y, Omoto K, Crawford MH, Nakagome Y (1994) A Y-associated allele is shared among a few ethnic groups of Asia. Jpn J Hum Genet 39:299–304
Nakagome Y, Young SR, Akane A, Numabe A, Jin DK, Yamori Y, Seki S, Tamura T, Nagafuchi S, Shiono H, Nakahori Y (1992) A Y-associated allele may be characteristic of certain ethnic groups in Asia. Ann Hum Genet 56:311–314
Nakahori Y, Tamura M, Yamada, Nakagome Y (1989) Two 47z [DXYS5] RFLPs on the X and the Y chromosome. Nucleic Acids Res 17:2152
Oh HJ, Shin DJ, Kim W (2000) Linkage disequilibrium between two Y-linked loci of DXY5Y and SRY465 in the Korean population. Korean J Genet 22(1):27–33
Ross MT et al (2005) The DNA sequence of the human X chromosome. Nature 434:325–337
Sambrook PN, Champion GD, Browne CD, Cairns D, Cohen ML, Day RO, Graham S, Handel M, Jaworski R, Kempler S (1989) Clin Exp Rheumatol 7(6):609–613
Shin DJ, Kim YJ, Kim W (1998) PCR-based polymorphic analysis for the Y chromosome loci DYS19 and DXYS5Y (47z) in the Korean population. Korean J Biol Sci 2:281–285
Shinka T, Tomita K, Toda T, Kotliarova SE, Lee J, Kuroki Y, Jin DK, Tokunaga K, Nakamura H, Nakahori Y (1999) Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage. J Hum Genet 44:240–245
Spurdle AB, Hammer MF, Jenkins T (1994) The Y Alu polymorphism in southern African population and its relationship to other Y-specific polymorphisms. Am J Hum Genet 54:319–330
Acknowledgements
We would like to thank Ms. Jin-Young Park, and all the technical staff of the Genome Research Group of KRIBB. This work was supported by a grant from the Ministry of Science and Technology of Korea.
Author information
Authors and Affiliations
Corresponding author
Additional information
Sung-Hwa Chae and Jeong-Mo Kim contributed equally to this work
Rights and permissions
About this article
Cite this article
Chae, SH., Kim, JM., Kim, IC. et al. Identification of novel allele on the locus 47z (DXYS5) in the Korean population. J Hum Genet 50, 664–666 (2005). https://doi.org/10.1007/s10038-005-0305-1
Received:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1007/s10038-005-0305-1