Article

A naturally occurring variant of <i>MBD4</i> causes maternal germline hypermutation in primates

2023-03-29

Abstract excerpt

As part of an ongoing genome sequencing project at the Oregon National Primate Research Center, we identified a rhesus macaque with a rare homozygous frameshift mutation in the gene Methyl-CpG binding domain 4 ( MBD4 ). MBD4 is responsible for the repair of C>T deamination mutations at CpG locations and has been linked to somatic hypermutation and cancer predisposition in humans. We show here that MBD4-associated...

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Literature Corpus work: 8625447c-a1af-5d0b-a7dc-2d4e15785685
DOI: 10.1101/2023.03.27.534460

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