The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

doi:10.1016/j.ajhg.2019.09.023

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Article

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

American journal of human genetics - 7 Nov 2019

Giannuzzi Giuliana, Schmidt Paul J, Porcu Eleonora, Willemin Gilles, Munson Katherine M, Nuttle Xander, Earl Rachel, Chrast Jacqueline, Hoekzema Kendra, Risso Davide, Männik Katrin, De Nittis Pasquelena, Baratz Ethan D, Herault Yann, Gao Xiang, Philpott Caroline C, Bernier Raphael A, Kutalik Zoltan, Fleming Mark D, Eichler Evan E, Reymond Alexandre

Abstract excerpt

Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4-BP5 copy-number variations, which are among the most common genetic causes of autism. These copy-number polymorphic duplications are under positive selection and include three to eight copies of BOLA2, a gene involved in the maturation of cytosolic iron-sulfur proteins. To investigate the potential advantage provided by the...

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Identifiers

PMID: 31668704
DOI: 10.1016/j.ajhg.2019.09.023
PMCID: PMC6849090

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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