ArticleGenome research2007
Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds.
Article in Genome research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
78 citing papers in PubMed, 150 citations in OpenAlex.
- Genetic testing predicts appearance but not behavior in dogs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Integrative Genotyping and Analysis of Canine Structural Variation Using Long-read and Short-read Data.Genome biology and evolution · 2025Article
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- Initial Genome-Wide Case-Control Study for Genetic Background of Retinal Dysplasia in Czechoslovakian Wolfdog.Veterinary sciences · 2025Article
- Genome-wide analyses reveals an association between invasive urothelial carcinoma in the Shetland sheepdog and NIPAL1.NPJ precision oncology · 2024Article
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- Ophthalmic Disease and Screening in Breeding Dogs.The Veterinary clinics of North America. Small animal practice · 2023Review
- IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.NPJ genomic medicine · 2023Article
- Review
- Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.PLoS genetics · 2023Article
- Evaluating the Histologic Grade of Digital Squamous Cell Carcinomas in Dogs and Copy Number Variation of KIT Ligand-A Correlation Study.Veterinary sciences · 2023Article
- The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries.PloS one · 2023Article
- Genotypic and allelic frequency of a mutation in theVeterinary record open · 2022Article
- Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography.Veterinary ophthalmology · 2022Article
- A novel multiplex polymerase chain reaction assay for the genotypic survey of the non-homologous end-joining factor 1 gene associated with Collie eye anomaly in Thailand.Veterinary world · 2022Article
- Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.PloS one · 2021Article
- Collie Eye Anomaly in Australian Kelpie dogs in Poland.BMC veterinary research · 2019Article
- Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health.National science review · 2019Article
- AGenes · 2019Article
- Demographic characteristics, site and phylogenetic distribution of dogs with appendicular osteosarcoma: 744 dogs (2000-2015).PloS one · 2019Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
The features of modern dog breeds that increase the ease of mapping common diseases, such as reduced heterogeneity and extensive linkage disequilibrium, may also increase the difficulty associated with fine mapping and identifying causative mutations. One way to address this problem is by combining data from multiple breeds segregating the same trait after initial linkage has been determined. The multibreed approach increases the number of potentially informative recombination events and reduces the size of the critical haplotype by taking advantage of shortened linkage disequilibrium distances found across breeds. In order to identify breeds that likely share a trait inherited from the same ancestral source, we have used cluster analysis to divide 132 breeds of dog into five primary breed groups. We then use the multibreed approach to fine-map Collie eye anomaly (cea), a complex disorder of ocular development that was initially mapped to a 3.9-cM region on canine chromosome 37. Combined genotypes from affected individuals from four breeds of a single breed group significantly narrowed the candidate gene region to a 103-kb interval spanning only four genes. Sequence analysis revealed that all affected dogs share a homozygous deletion of 7.8 kb in the NHEJ1 gene. This intronic deletion spans a highly conserved binding domain to which several developmentally important proteins bind. This work both establishes that the primary cea mutation arose as a single disease allele in a common ancestor of herding breeds as well as highlights the value of comparative population analysis for refining regions of linkage.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.