title: From mice to humans.
abstract: The genomes of many species have now been completely sequenced including human and mouse. Great progress has been made in understanding the complex genetics that underlie diabetes and obesity in human populations. One of the current challenges is the functional identification and characterization of the genes within loci that are being mapped. There are many approaches to this problem and this review outlines the valuable role that the mouse can play. We outline the mouse resources that are available to the research community, including knockouts with conditional potential for every gene, and the efforts of the International Mouse Phenotyping Consortium to attach phenotype information to these genes. We also briefly consider the potential of TALEN technology to tailor-make new mouse models of specific mutations discovered in humans. Finally, we consider the recent progress in characterizing the GWAS genes FTO, TCF7L2, CDKAL1, and SLC30A8 in engineered mouse models.
authors.affiliation: MRC Harwell, Mammalian Genetics Unit, Medical Research Council, Harwell Science and Innovation Campus, Oxfordshire, OX11 0RD, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: McMurray
authors.forename: Lee
authors.initials: L
authors.lastname: Moir
authors.forename: Roger D
authors.initials: RD
authors.lastname: Cox
mesh_terms: D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D000818:Animals; D051360:Cyclin-Dependent Kinase 5 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D006899:Mixed Function Oxygenases / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009765:Obesity / Q000235:genetics*; D007652:Oxo-Acid-Lyases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics; D012359:tRNA Methyltransferases
chemical_list: D009419:Nerve Tissue Proteins; D011506:Proteins; C544894:TCF7L2 protein, human; C544895:Tcf7l2 protein, mouse; D058118:Transcription Factor 7-Like 2 Protein; D006899:Mixed Function Oxygenases; C524916:FTO protein, mouse; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; C526492:FTO protein, human; D012359:tRNA Methyltransferases; D051360:Cyclin-Dependent Kinase 5; C525110:CDKAL1 protein, human; C559068:CDKAL1 protein, mouse; D007652:Oxo-Acid-Lyases