Using the Neandertal and Denisova Genetic Data to Understand the Common MAPT 17q21 Inversion in Modern Humans
Por:
Seto-Salvia, N, Sanchez-Quinto, F, Carbonell, E, Lorenzo, C, Comas, D, Clarimon, J
Publicada:
1 dic 2012
Resumen:
The polymorphic inversion on 17q21, that includes the MAPT gene, represents a unique locus in the human genome characterized by a large region with strong linkage disequilibrium. Two distinct haplotypes, H1 and H2, exist in modern humans, and H1 has been unequivocally related to several neurodegenerative disorders. Recent data indicate that recurrent inversions of this genomic region have occurred through primate evolution, with the H2 haplotype being the ancestral state. Neandertals harbored the H1 haplotype; however, until now, no data were available for the Denisova hominin. Neandertals and Denisovans are sister groups that share a common ancestor with modern humans. We analyzed the MAPT sequence and assessed the differences between modern humans, Neandertals, Denisovans, and great apes. Our analysis indicated that the Denisova hominin carried the H1 haplotype, and the Neandertal and Denisova common ancestor probably shared the same subhaplotype (H1j). We also found 68 intronic variants within the MAPT gene, 23 exclusive to Denisova hominin, 6 limited to Neandertals, and 24 exclusive to present-day humans. Our results reinforce previous data; this suggests that the 17q21 inversion arose within the modern human lineage. The data also indicate that archaic hominins that coexisted in Eurasia probably shared the same MAPT subhaplotype, and this can be found in almost 2% of chromosomes from European ancestry.
Filiaciones:
Seto-Salvia, N:
Univ Autonoma Barcelona, IIB Hosp Santa Creu & St Pau, E-08193 Barcelona, Spain
Univ Rovira & Virgili, Area Prehist, E-43007 Tarragona, Spain
Inst Catala Paleoecol Humana & Evolucio Social IP, Tarragona, Spain
Sanchez-Quinto, F:
CEXS Univ Pompeu Fabra, Inst Biol Evolut UPF CSIC, Barcelona, Spain
Carbonell, E:
Univ Rovira & Virgili, Area Prehist, E-43007 Tarragona, Spain
Inst Catala Paleoecol Humana & Evolucio Social IP, Tarragona, Spain
Inst Vertebrate Paleontol & Paleoanthropol Beijin, Beijing, Peoples R China
Lorenzo, C:
Univ Rovira & Virgili, Area Prehist, E-43007 Tarragona, Spain
Inst Catala Paleoecol Humana & Evolucio Social IP, Tarragona, Spain
Comas, D:
CEXS Univ Pompeu Fabra, Inst Biol Evolut UPF CSIC, Barcelona, Spain
Clarimon, J:
Univ Autonoma Barcelona, IIB Hosp Santa Creu & St Pau, E-08193 Barcelona, Spain
Ctr Networker Biomed Res Neurodegenerat Dis CIBER, Madrid, Spain
Open Access
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