Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development

To investigate the genetic basis of hereditary lens opacities we analyzed 31 cases of bilateral congenital cataract in Red Holstein Friesian cattle. A genome-wide association study revealed a significant association on bovine chromosome 7 at positions 6,166,179 and 12,429,691. Whole genome re-sequen...

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Veröffentlicht in:	PloS one 2017-07, Vol.12 (7), p.e0180665-e0180665
Hauptverfasser:	Hollmann, Anne K, Dammann, Insa, Wemheuer, Wiebke M, Wemheuer, Wilhelm E, Chilla, Almuth, Tipold, Andrea, Schulz-Schaeffer, Walter J, Beck, Julia, Schütz, Ekkehard, Brenig, Bertram
Format:	Artikel
Sprache:	eng
Schlagworte:	a2-Macroglobulin alpha-Macroglobulins - physiology Analysis Animals Beef cattle Bioinformatics Biology and Life Sciences Cataract - genetics Cataract - veterinary Cataracts Cattle Chromosome 7 Chromosome Mapping Codon, Nonsense Codons Congenital diseases Epithelium Eye Eye lens Female Fetuses Gene expression Gene sequencing Genes Genetic aspects Genetic disorders Genome-wide association studies Genomes Genomics Immunohistochemistry Lens, Crystalline - growth & development Lenses Mammals Medicine and Health Sciences Mutation Neuropathology Nonsense mutation Research and analysis methods Ribonucleic acid RNA Stop codon Veterinary medicine α2-Macroglobulin
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