ArticlePloS one2014
Looking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattle.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Emerging Trends and Research Foci in Cataract Genes: A Bibliometric and Visualized Study.Frontiers in genetics · 2021Pooled it
- Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.G3 (Bethesda, Md.) · 2023Article
- Selection Signatures in Italian Livestock Guardian and Herding Shepherd Dogs.Veterinary sciences · 2022Article
- An automated multi-modal graph-based pipeline for mouse genetic discovery.Bioinformatics (Oxford, England) · 2022Article
- A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract.Animal genetics · 2022Article
- Congenital cataract and spherophakia leading to starvation in a free-ranging muskox neonate from the Northwest Territories, Canada.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2022Article
- Integrative QTL mapping and selection signatures in Groningen White Headed cattle inferred from whole-genome sequences.PloS one · 2022Article
- Article
- CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.Scientific reports · 2020Article
- KDM2B-associated paunch calf syndrome in Marchigiana cattle.Journal of veterinary internal medicine · 2020Article
- Deciphering the patterns of genetic admixture and diversity in southern European cattle using genome-wide SNPs.Evolutionary applications · 2019Article
- Study of congenital Morgagnian cataracts in Holstein calves.PloS one · 2019Article
- Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Scientific reports · 2017Article
- Congenital nuclear cataracts in a Holstein dairy herd.The Canadian veterinary journal = La revue veterinaire canadienne · 2017Article
- Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development.PloS one · 2017Article
- A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds.Genetics, selection, evolution : GSE · 2016Article
- A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle.Animal genetics · 2016Article
- A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle.BMC genetics · 2016Article
- Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation.PLoS genetics · 2015Article
- De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.Annals of clinical and translational neurology · 2015Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use of large-sized animal models instead of those using mice for the study of this condition has been discussed due to the small size of rodent lenses. Four juvenile-onset cases of bilateral incomplete immature nuclear cataract were recently observed in Romagnola cattle. Pedigree analysis suggested a monogenic autosomal recessive inheritance. In addition to the cataract, one of the cases displayed abnormal head movements. Genome-wide association and homozygosity mapping and subsequent whole genome sequencing of a single case identified two perfectly associated sequence variants in a critical interval of 7.2 Mb on cattle chromosome 28: a missense point mutation located in an uncharacterized locus and an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del). RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes. Nidogen 1 deficient mice show neurological abnormalities and highly irregular crystal lens alterations. This study adds NID1 to the list of candidate genes for inherited cataract in humans and is the first report of a naturally occurring mutation leading to non-syndromic catarct in cattle provides a potential large animal model for human cataract.
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