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Using the neanderthal and denisova genetic data to understand the common MAPT 17q21 inversion in modern humans.

Human biology - 1 Dec 2012

Setó-Salvia Núria, Sánchez-Quinto Federico, Carbonell Eudald, Lorenzo Carlos, Comas David, Clarimón Jordi

Abstract excerpt

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...

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Identifiers

PMID: 23959642
DOI: 10.3378/027.084.0605

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MAPT

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Research trail→

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Using the neanderthal and denisova genetic data to understand the common MAPT 17q21 inversion in modern humans.PMID 23959642Read ↗

The distribution and most recent common ancestor of the 17q21 inversion in humans.Semantic proximity Read ↗

Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Semantic proximity Read ↗

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism.Semantic proximity Read ↗

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.Semantic proximity Read ↗

Evidence suggesting that <i>Homo neanderthalensis</i> contributed the H2 <i>MAPT</i> haplotype to <i>Homo sapiens</i>Semantic proximity Read ↗

Convergent mutations and single nucleotide variants in mitochondrial genomes of modern humans and NeanderthalsSemantic proximity Read ↗

Structural haplotypes and recent evolution of the human 17q21.31 region.Semantic proximity Read ↗

From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome.Semantic proximity Read ↗

Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locusSemantic proximity Read ↗

Structural diversity and African origin of the 17q21.31 inversion polymorphism.Semantic proximity Read ↗

Convergent Mutations and Single Nucleotide Variants in Mitochondrial Genomes of Modern Humans and Neanderthals.Semantic proximity Read ↗

Evidence for large inversion polymorphisms in the human genome from HapMap data.Semantic proximity Read ↗

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