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1 December 2012 Using the Neandertal and Denisova Genetic Data to Understand the Common MAPT 17q21 Inversion in Modern Humans
Núria Setó-Salvia, Federico Sánchez-Quinto, Eudald Carbonell, Carlos Lorenzo, David Comas, Jordi Clarimón
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Abstract

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, Hl and H2, exist in modern humans, and Hl 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.

© 2013 Wayne State University Press, Detroit, Michigan 48201-1309.
Núria Setó-Salvia, Federico Sánchez-Quinto, Eudald Carbonell, Carlos Lorenzo, David Comas, and Jordi Clarimón "Using the Neandertal and Denisova Genetic Data to Understand the Common MAPT 17q21 Inversion in Modern Humans," Human Biology 84(6), 633-640, (1 December 2012). https://doi.org/10.3378/027.084.0605
Received: 14 May 2012; Accepted: 1 September 2012; Published: 1 December 2012
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KEYWORDS
DENISOVA
Genetics
haplotypes
MAPT
MICROTUBULE-ASSOCIATED PROTEIN TAU
Neandertal
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