XB-ART-51783Semin Cell Dev Biol March 1, 2016; 51 106-16.
Xenopus as a model system for studying pancreatic development and diabetes.
Diabetes is a chronic disease caused by the loss or dysfunction of the insulin-producing β-cells in the pancreas. To date, much of our knowledge about β-cells in humans comes from studying rare monogenic forms of diabetes. Importantly, the majority of mutations so far associated to monogenic diabetes are in genes that exert a regulatory role in pancreatic development and/or β-cell function. Thus, the identification and study of novel mutations open an unprecedented window into human pancreatic development. In this review, we summarize major advances in the genetic dissection of different types of monogenic diabetes and the insights gained from a developmental perspective. We highlight future challenges to bridge the gap between the fast accumulation of genetic data through next-generation sequencing and the need of functional insights into disease mechanisms. Lastly, we discuss the relevance and advantages of studying candidate gene variants in vivo using the Xenopus as model system.
PubMed ID: 26806634
Article link: Semin Cell Dev Biol
Genes referenced: abcc8 celf3 eif2ak3 foxp3 gata4 gata6 gck glis3 hnf1b ins kcnj11 mafa mafb mnx1 neurod1 neurog3 nkx2-2 nkx6-1 onecut1 pax4 pax6 pdx1 ptf1a rfx6 slc2a2 sox9 tspan8 wfs1
GO keywords: pancreas development
Disease Ontology terms: maturity-onset diabetes of the young
OMIMs: DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
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