Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage (original) (raw)

Journal of Human Genetics volume 44, pages 240–245 (1999)Cite this article

Abstract

A polymorphism in the coding sequence of the SRY gene was found by single-strand conformation polymorphism (SSCP) and direct sequencing analysis. The new allele of the SRY gene, which is raised by a C-to-T transition in the 155th codon, was found in 24% of Honshu, 35% of Okinawan, and 51% of Korean males respectively, whereas it was not observed among 16 Caucasian and 18 Negroid males. A haplotype analysis of the Y chromosome was carried out in Japanese, Korean, Caucasian and Negroid populations, using a combination of the polymorphisms in SRY, DXYS5Y, DYS287, and DXYS241Y loci. The results indicated that the Y chromosomes can be classified into seven haplotypes (Ia, Ib, Ic, IIa, IIb, III, IV). However, of these seven, only four (Ia, IIa, III, IV) were observed in the Japanese population. Furthermore, the presumed haplotype C, Y1, YAP, (CA)14, from which haplotype III was probably derived, was not found in any populations in this study. The regional distribution of each haplotype revealed that type III is more frequently observed in Okinawa (16%) and in Korea (21%) than in Honshu (4.4%). The haplotype analysis of the Y chromosome may contribute to the exploration of the origin of Japanese and the relationship between east Asian populations.

Similar content being viewed by others

Author information

Authors and Affiliations

  1. Department of Public Health, School of Medicine, University of Tokushima, Kuramoto-cho, Tokushima 770-0085, Japan Tel. +81-886-33-7075 (ext. 2272); Fax +81-886-33-7453 e-mail: nakahori@basic.med.tokushima-u.ac.jp, Japan
    Toshikatsu Shinka, Juwon Lee, Yoko Kuroki, Hideki Nakamura & Y. Nakahori
  2. Department of Human Genetics, Graduate School of International Health, University of Tokyo, Tokyo, Japan, Japan
    Keiko Tomita, Svetlana E. Kotliarova & Katsushi Tokunaga
  3. Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan, Japan
    Tatsushi Toda
  4. Department of Pediatrics, Samsung Medical Center, Seoul, Korea, Korea
    Dong Kyu Jin

Authors

  1. Toshikatsu Shinka
  2. Keiko Tomita
  3. Tatsushi Toda
  4. Svetlana E. Kotliarova
  5. Juwon Lee
  6. Yoko Kuroki
  7. Dong Kyu Jin
  8. Katsushi Tokunaga
  9. Hideki Nakamura
  10. Y. Nakahori

Additional information

Received: February 25, 1999 / Accepted: April 5, 1999

Rights and permissions

About this article

Cite this article

Shinka, T., Tomita, K., Toda, T. et al. Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage.J Hum Genet 44, 240–245 (1999). https://doi.org/10.1007/s100380050151

Download citation

This article is cited by