HLA GENETIC DIVERSITY AND LINGUISTIC VARIATION IN EAST ASIA Alicia SANCHEZ-MAZAS, Estella S. POLONI, Guillaume JACQUES and Laurent SAGART 2005

INTRODUCTION HLA-DRB1  a cell surface protein encoding gene (DRB1), located on the short arm of chromosome 6 and surrounded by other HLA loci.

HLA genetic diversity in East Asian populations HLA-DRB1 genetic profiles generally highly heterogeneousBUT some alleles reach relatively high frequencies in specific East Asian populations high level of genetic diversity in Continental East Asia

The “least controversial “phylogeny of the 40 East Asian languages

Correlations between genetic, geographic, and linguistic distances All 40 populations: linguistic families well differentiated geographically – no genetic correlation Continental East Asians and Austronesians : very different modes of evolution

Genetic diversity within and among linguistic groups Austronesian the most diverseChinese the most homogeneous Altaic,Tai-Kadai, Austroasiatic intermediate a highly heterogeneous group of homogeneous populations homogeneous groups of heterogeneous populations intermediate

Linguistic hypotheses considered through HLA genetic analyses The Altaic family The Altaic-Sinitic linguistic border Northern-southern East Asian differentiation Proto-East-Asian and Austric hypotheses

The Altaic family intensive contacts among populations and/or with external groups multiple migrations or re-colonisations in Northeast Asia heterogeneous profiles

The Altaic-Sinitic linguistic border northern Chinese genetically undifferentiated from several Altaic populations (Manchu and Mongolian) northern Chinese dialects „altaicized” (Hashimoto,1986)

Northern-southern East Asian differentiation A.all East Asian populations share a unique origin in mainland Southeast Asia, with a further migration to the north B.„pincer model”: two independent migrations into East Asia along a southern and a northern route Present study: high correlation between genetic and geographic distances and a continuous pattern of genetic differentiation along a north-south geographic axis.

Proto-East-Asian and Austric hypotheses Sino-Austronesian hypothesis (Sagart) “Greater Austric” hypothesis (Benedict, Ruhlen, Peiros)  HLA results do not support these hypotheses Tai-Kadai+Austronesian (Sagart, Benedict)  HLA results indicate a genetic relationship