Systematic dissection of the genomic mechanisms underlying differential tauopathy risks associated with the human 17q21.31 locus

Through analysis of chromatin accessibility, we pinpointed several pathways involved in neuronal signaling that differentiate neurons from H1/H1 and H2/H2 individuals, including DARs at the MAPT locus that likely account for reduced expression on H2 haplotypes. We also identified several haplotype-divergent SNPs predicted to interrupt TF binding required for MAPT expression. Both of these changes potentially contribute to reduced risk for tauopathy in H2/H2 individuals.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2024-12-01
DOI
https://doi.org/10.1002/alz.089768
Primary Topic
Machine Learning in Bioinformatics
Type
article
Field-Weighted Citation Impact
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article

Systematic dissection of the genomic mechanisms underlying differential tauopathy risks associated with the human 17q21.31 locus

Daniel H. Geschwind, Le Qi, Kathryn R. Bowles, Chiara Pedicone et al.
Alzheimer s & Dementia
Machine Learning in Bioinformatics
article

Systematic dissection of the genomic mechanisms underlying differential tauopathy risks associated with the human 17q21.31 locus

Daniel H. Geschwind, Le Qi, Kathryn R. Bowles, Chiara Pedicone, Alison Goate, Jiani Yin
article en

Abstract

Through analysis of chromatin accessibility, we pinpointed several pathways involved in neuronal signaling that differentiate neurons from H1/H1 and H2/H2 individuals, including DARs at the MAPT locus that likely account for reduced expression on H2 haplotypes. We also identified several haplotype-divergent SNPs predicted to interrupt TF binding required for MAPT expression. Both of these changes potentially contribute to reduced risk for tauopathy in H2/H2 individuals.

Alzheimer s & DementiaVol. 20(S1)
University of California, Los Angeles (US), University of Edinburgh (GB), Icahn School of Medicine at Mount Sinai (US)
Good health and well-being
Openalex Percentile: Top 78%
Machine Learning in Bioinformatics
DOIOpen Access PDFOpenAlex
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Systematic dissection of the genomic mechanisms underlying differential tauopathy risks associated with the human 17q21.31 locus — Daniel H. Geschwind, Le Qi, et al. · Alzheimer s & Dementia (2024) | TGRS Research Map | TGRS