E-Poster Presentation ESA-SRB-ANZBMS 2021

Gene mining for novel molecular determinants of dental and skeletal homeostasis and disease in the Collaborative Cross (#701)

Samuel Bennett 1 , Jinbo Yuan 1 , Jacob Kenny 1 , Jennifer Tickner 1 , Eason Guo 1 , Grant Morahan 1 , Curtise Ng 2 , Jiake Xu 1
  1. The University of Western Australia, Perth, WA, Australia
  2. Curtin University of Technology, Perth, WA , Australia

The Collaborative Cross (CC) is an octo-parental recombinant inbred panel of mice, generated as a community resource by the CC Consortium to advance our knowledge and understanding of human disease. The Gene Mine (Geniad) is the WA breeding program of the CC, consisting of over 1000 strains, which have been housed by UWA since 2004. The aim of the CC is to provide a stable, reproducible genetic reference platform for the qualitative and quantitative analyses of causative gene-variants, epistatic mechanisms, and environmental factors which determine disease and characteristic phenotypes, including osteoporosis, cardiovascular disease, cancer, and diabetes. Integration of phenotypic and genomic data over time and across a variety of fields is vital to the delivery of the CC reference platform and advancing our understanding of disease susceptibility. Research of the phenotypic and genomic inter-relationships of the osteoporosis, osteoarthritis, and scoliosis fields of the CC has been initiated by our group. My research investigates the dental and skeletal fields of the Geniad CC population. Aims: 1) to identify novel molecular determinants of dental and skeletal homeostasis and disease, and 2) to integrate findings from the dental and skeletal fields across concomitant CC fields, including osteoporosis, osteoarthritis, and scoliosis. Methods: 2) Geniad mice will be screened by conventional X-ray for dental, skeletal, scoliosis and kyphosis phenotypes, 2) Micro-CT analysis of dental phenotypes, 3) Mapping of QTL to verify candidate genes for dental phenotypes, 4) In vitro gene expression and bioinformation analyses of candidate gene involvement. Results: X-ray screening of 1137 Geniad mice across 84 strains: scoliosis phenotype 4.3%, kyphosis phenotype 5.2%, kyphoscoliosis phenotype 1.7%, dental phenotype 21.6% (including hypodontia 7.03%). Conclusions: X-ray screening results approximate expected findings and indicate the need for micro-CT analysis, identification and mapping of QTL, and determination of candidate gene involvement for dental, scoliosis and kyphosis phenotypes.