Y-chromosome diversity in Central Africa Aussois, September 2005 Gemma Berniell-Lee, Jaume Bertranpetit, David Comas.

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Y-chromosome diversity in Central Africa Aussois, September 2005 Gemma Berniell-Lee, Jaume Bertranpetit, David Comas

A HAPLOID SYSTEM THE Y CHROMOSOME Inherited via the father No recombination Variation passed on in the form of a block

STRs and SNPs THE Y CHROMOSOME TACGTAGCTAGCTAGCTAGCTAATGCAC TTCGTAGCTAGCTAGCTAATGCACGCTA TACGTAGCTAGCTAGCTAGCTAATGCAC TTCGTAGCTAGCTAGCTAATGCACGCTA TACGTAGCTAGCTAGCTAGCTAATGCAC TTCGTAGCTAGCTAGCTAATGCACGCTA Set of alleles for a number of STRsHAPLOTYPES HAPLOGROUPSSet of alleles for a number of SNPs

METHODS DYS 388 DYS 389 I/II DYS A7.1 DYS A7.2 DYS 385 DYS 390 DYS 391 DYS 392 DYS 434 DYS 435 DYS 436 DYS 437 DYS 438 DYS 439 DYS 462 DYS 19 DYS 393 EBF MULTIPLEX MSI MULTIPLEX CTS MULTIPLEX

RESULTS GENETIC DIVERSITY INDICES

RESULTS FOUNDER BANTU HAPLOTYPE Thomas et al.(2000) DYS DYS DYS DYS DYS Pereira et al.(2002) described three one-step neighbour haplotypes High frequencies of founder Bantu haplotype and its one-step neighbours in all Bantu populations and identified 3 new ones. Founder Bantu haplotype in 2 pygmy samples and a one-step neighbour in one pygmy sample.

RESULTS POPULATION GENETIC RELATIONHIPS Multidimensional Scaling Plots of R ST genetic distances Stress 0.11

Stress 0.08 RESULTS POPULATION GENETIC RELATIONHIPS Multidimensional Scaling Plots of R ST genetic distances

POPULATION STRUCTURE RESULTS

PHYLOGENETIC RELATIONSHIPS Phylogenetic network of Y-chromosome haplotypes carrying the allele 13.2 of DYS 385 Estimated date of appearance ~5,500 +/- 1,300 years ago.

CONCLUSIONS Bantu populations from Central Africa are very homogeneous, whilst Pygmy populations seem to be quite diverse. Bantu populations are statistically different from Pygmy populations Evidence of possible admixture events between Pygmy and Bantu populations, pointing towards a Bantu-to-Pygmy flow of paternal lineages No evidence of the Fang population or any of the Bantu populations in our sample set having an origin other than Bantu

FUTURE WORK Define genetic diversity present at Y-SNP level 48 Y-SNP multiplex reaction FUTURE WORK