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Quantitative trait loci mapping identifies genetic loci modifying MafAS64F-mediated dysglycemia
bioRxiv · · Preprint · Open access
Maurer, Johnson + 4 more
Abstract ↗AI summary
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QTL mapping in C57BL/6J×SJL/J F2 mice identifies modifying loci on 6 chromosomes (2, 126 Mbp; 3, 59 and 103 Mbp; 7, 47 Mbp; 11, 45 Mbp; 13, 4 Mbp; 16, 85–97 Mbp) for MafAS64F/+ dysglycemia.
- Why it matters: Genetic background can change how strongly monogenic diabetes mutations show up, but the loci that modify MafA-driven dysglycemia are not defined.
- What they did: MafaS64F/+ F2 intercross mice were phenotyped by oral glucose tolerance testing at 4, 5, 6, and 8 weeks, while SNPs between C57BL/6J and SJL/J were used to map QTL and nominate 172 candidate genes.
- The result: The QTL regions include known MODY genes Abcc8 (Sur1) and Kcnj11 (Kir6.2) on chromosome 7, with background polymorphisms that may shape phenotypic penetrance of MafAS64F-mediated dysglycemia.
The findingWhy it mattersWhat they didThe result
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