Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.

doi:10.1016/j.cmet.2020.05.007

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Article

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.

Cell metabolism - 2 Jun 2020

Marenne Gaëlle, Hendricks Audrey E, Perdikari Aliki, Bounds Rebecca, Payne Felicity, Keogh Julia M, Lelliott Christopher J, Henning Elana, Pathan Saad, Ashford Sofie, Bochukova Elena G, Mistry Vanisha, Daly Allan, Hayward Caroline, Wareham Nicholas J, O'Rahilly Stephen, Langenberg Claudia, Wheeler Eleanor, Zeggini Eleftheria, Farooqi I Sadaf, Barroso Inês

Abstract excerpt

Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using exome and targeted sequencing in 2,737 severely obese cases and 6,704 controls, we identified three genes (PHIP, DGKI, and ZMYM4) with an excess burden of very rare predicted deleterious variants in cases. In cells, we found that nuclear PHIP (pleckstrin homology domain interacting protein) directly enhances transcription of...

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Identifiers

PMID: 32492392
DOI: 10.1016/j.cmet.2020.05.007
PMCID: PMC7267775

Genes

PHIP
POMC
DGKI
ZMYM4

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