ReviewAnimal genetics2014
Mutation discovery for Mendelian traits in non-laboratory animals: a review of achievements up to 2012.
Review in Animal genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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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Who cites it
17 citing papers in PubMed, 38 citations in OpenAlex.
- Inherited Disorders and Disease-Resistance Genomics in Kazakhstan Ruminants: Evidence, Limits and Breeding Priorities.International journal of molecular sciences · 2026Review
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Locating a novel autosomal recessive genetic variant in the cattle glucokinase gene using only WGS data from three cases and six carriers.Frontiers in genetics · 2022Article
- A variance component estimation approach to infer associations between Mendelian polledness and quantitative production and female fertility traits in German Simmental cattle.Genetics, selection, evolution : GSE · 2021Article
- Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.Genetics · 2021Article
- KDM2B-associated paunch calf syndrome in Marchigiana cattle.Journal of veterinary internal medicine · 2020Article
- Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data.BMC genomics · 2020Article
- A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.BMC genetics · 2017Article
- Using sheep genomes from diverse U.S. breeds to identify missense variants in genes affecting fecundity.F1000Research · 2017Article
- A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle.BMC genetics · 2016Article
- Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.BMC veterinary research · 2016Article
- Using diverse U.S. beef cattle genomes to identify missense mutations inF1000Research · 2016Article
- A simple strategy for managing many recessive disorders in a dairy cattle breeding program.Genetics, selection, evolution : GSE · 2015Article
- A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy.G3 (Bethesda, Md.) · 2015Article
- Article
- DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.BMC veterinary research · 2015Article
- Imputation of sequence level genotypes in the Franches-Montagnes horse breed.Genetics, selection, evolution : GSE · 2014Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Within two years of the re-discovery of Mendelism, Bateson and Saunders had described six traits in non-laboratory animals (five in chickens and one in cattle) that show single-locus (Mendelian) inheritance. In the ensuing decades, much progress was made in documenting an ever-increasing number of such traits. In 1987 came the first discovery of a causal mutation for a Mendelian trait in non-laboratory animals: a non-sense mutation in the thyroglobulin gene (TG), causing familial goitre in cattle. In the years that followed, the rate of discovery of causal mutations increased, aided mightily by the creation of genome-wide microsatellite maps in the 1990s and even more mightily by genome assemblies and single-nucleotide polymorphism (SNP) chips in the 2000s. With sequencing costs decreasing rapidly, by 2012 causal mutations were being discovered in non-laboratory animals at a rate of more than one per week. By the end of 2012, the total number of Mendelian traits in non-laboratory animals with known causal mutations had reached 499, which was half the number of published single-locus (Mendelian) traits in those species. The distribution of types of mutations documented in non-laboratory animals is fairly similar to that in humans, with almost half being missense or non-sense mutations. The ratio of missense to non-sense mutations in non-laboratory animals to the end of 2012 was 193:78. The fraction of non-sense mutations (78/271 = 0.29) was not very different from the fraction of non-stop codons that are just one base substitution away from a stop codon (21/61 = 0.34).
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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.