BioProject

Cataract is a known condition leading to its opacification of the crystalline and causing total or partial blindness. More...

Cataract is a known condition leading to its opacification of the crystalline and causing total or partial blindness. Its etiology is much diversified and genetics has been dimostrated to play a role in the predisposition to the disease. In addition, mutations in genes are known to cause in human congenital cataract. Use of animal models for the study of this condition is discussed sin a long time and successful studies with sheep have been carried out. Has been pointed out the need of a medium sized animal model due to the fact that rodents have small lenses that are hard to dissect and manipulate and need to be pooled for analysis. Romagnola cattle, is a beef cattle bred in center-north Italy developed cataract in the earlies stages of their life. With a combined approach of mass genotyping and Next generation Sequenching we were able to quickly identify the causative mutation a 853 bp deletion located in exon 17 of the bovine NID1 (nidogen-1, also called entactin-1) gene involving a significant part of intron 17 (c.3604del26+827). The transcript is devoid of the mutant exon and the mutation is predicted to cause a frameshift and premature stop codon beginning with amino acid residue 1207 in the bovine NID1 protein sequence (p.1207fs27X). Less...