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Article

GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health.

Nature communications - 7 Jul 2021

Zhao Yajie, Stankovic Stasa, Koprulu Mine, Wheeler Eleanor, Day Felix R, Lango Allen Hana, Kerrison Nicola D, Pietzner Maik, Loh Po-Ru, Wareham Nicholas J, Langenberg Claudia, Ong Ken K, Perry John R B

Abstract excerpt

Mosaic loss of chromosome Y (LOY) in leukocytes is the most common form of clonal mosaicism, caused by dysregulation in cell-cycle and DNA damage response pathways. Previous genetic studies have focussed on identifying common variants associated with LOY, which we now extend to rarer, protein-coding variation using exome sequences from 82,277 male UK Biobank participants. We find that loss of function of two...

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Share to Chromosomes, Human, Y
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34234147
DOI: 10.1038/s41467-021-24504-y
PMCID: PMC8263756

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