ArticlePloS one2011
A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- A Nonsynonymous Substitution ofGenes · 2024Article
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- Intronic variant in POU1F1 associated with canine pituitary dwarfism.Human genetics · 2021Article
- Dwarfism in Tibetan Terrier dogs with anJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2021Article
- Article
- Whole Genome Sequencing Reveals Signatures for Artificial Selection for Different Sizes in Japanese Primitive Dog Breeds.Frontiers in genetics · 2021Article
- Case Report: Human Recombinant Growth Hormone Therapy in a DSH Cat Presented With Dwarfism.Frontiers in veterinary science · 2021Article
- Isolated growth hormone deficiency in a Chihuahua with aJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2020Article
- Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.BMC genomics · 2016Article
- Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation.Journal of veterinary internal medicine · 2015Article
- Effective population size, extended linkage disequilibrium and signatures of selection in the rare dog breed lundehund.PloS one · 2015Article
- Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing.Human mutation · 2013Article
- Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease.Endocrinology · 2013Article
- Juvenile hyposomatotropism in a Somali cat presenting with seizures due to intermittent hypoglycaemia.JFMS open reportsArticle
- Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3.Journal of veterinary internal medicineArticle
- Pituitary Dwarfism and Adrenocorticotropic Hormone Deficiency in a White Swiss Shepherd Dog With LHX3 Mutation.Journal of veterinary internal medicineArticle
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Authors and funding
8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Dwarfism in German shepherd dogs is due to combined pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp. One dwarf was compound heterozygous for the deletion and an insertion of an asparagine residue in the DNA-binding homeodomain of LHX3, suggesting involvement of the gene in the disorder. An exon trapping assay indicated that the shortened intron is not spliced efficiently, probably because it is too small. We applied bisulfite conversion of cytosine to uracil in RNA followed by RT-PCR to analyze the splicing products. The aberrantly spliced RNA molecules resulted from either skipping of exon 5 or retention of intron 5. The same splicing defects were observed in cDNA derived from the pituitary of dwarfs. A survey of similarly mutated introns suggests that there is a minimal distance requirement between the splice donor and branch site of 50 nucleotides. In conclusion, a contraction of a DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with pituitary dwarfism.
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