ArticlePloS one2010
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 65 citations in OpenAlex.
- Article
- Genetics of Wool and Cashmere Fibre: Progress, Challenges, and Future Research.Animals : an open access journal from MDPI · 2024Article
- Genome-wide association with footrot in hair and wool sheep.Frontiers in genetics · 2023Article
- A Nonsense Variant inGenes · 2021Article
- Article
- Unveiling genomic regions that underlie differences between Afec-Assaf sheep and its parental Awassi breed.Genetics, selection, evolution : GSE · 2017Article
- Genomic prediction and genome-wide association study for dagginess and host internal parasite resistance in New Zealand sheep.BMC genomics · 2015Article
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
- Genome-Wide Association Identifies SLC2A9 and NLN Gene Regions as Associated with Entropion in Domestic Sheep.PloS one · 2015Article
- Signatures of selection in sheep bred for resistance or susceptibility to gastrointestinal nematodes.BMC genomics · 2014Article
- Genomic variation and population structure detected by single nucleotide polymorphism arrays in Corriedale, Merino and Creole sheep.Genetics and molecular biology · 2014Article
- Development of the catfish 250K SNP array for genome-wide association studies.BMC research notes · 2014Article
- Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Orphanet journal of rare diseases · 2014Article
- Article
- Selection signatures in worldwide sheep populations.PloS one · 2014Article
- Retroviral infections in sheep and goats: small ruminant lentiviruses and host interaction.Viruses · 2013Review
- Article
- Occurrence of congenital disorders in Swiss sheep.Acta veterinaria Scandinavica · 2013Article
- Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.PloS one · 2013Article
- Genome-wide genetic diversity and differentially selected regions among Suffolk, Rambouillet, Columbia, Polypay, and Targhee sheep.PloS one · 2013Article
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microphthalmia in sheep is an autosomal recessive inherited congenital anomaly found within the Texel breed. It is characterized by extremely small or absent eyes and affected lambs are absolutely blind. For the first time, we use a genome-wide ovine SNP array for positional cloning of a Mendelian trait in sheep. Genotyping 23 cases and 23 controls using Illumina's OvineSNP50 BeadChip allowed us to localize the causative mutation for microphthalmia to a 2.4 Mb interval on sheep chromosome 22 by association and homozygosity mapping. The PITX3 gene is located within this interval and encodes a homeodomain-containing transcription factor involved in vertebrate lens formation. An abnormal development of the lens vesicle was shown to be the primary event in ovine microphthalmia. Therefore, we considered PITX3 a positional and functional candidate gene. An ovine BAC clone was sequenced, and after full-length cDNA cloning the PITX3 gene was annotated. Here we show that the ovine microphthalmia phenotype is perfectly associated with a missense mutation (c.338G>C, p.R113P) in the evolutionary conserved homeodomain of PITX3. Selection against this candidate causative mutation can now be used to eliminate microphthalmia from Texel sheep in production systems. Furthermore, the identification of a naturally occurring PITX3 mutation offers the opportunity to use the Texel as a genetically characterized large animal model for human microphthalmia.
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