Article

The human-specific <i>BOLA2</i> duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

2019-07-05

Abstract excerpt

Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4-BP5 copy number variations, one of the most common genetic causes of autism. These copy number polymorphic duplications are under positive selection and include 3–8 copies of BOLA2 , a gene involved in the maturation of cytosolic iron-sulfur proteins. To investigate the potential advantage provided by the rapid expansion of...

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Literature Corpus work: 999e4434-8a73-5321-ad79-31ed70e4f072
DOI: 10.1101/693952

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