ArticlePloS one2015
A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 38 citations in OpenAlex.
- ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.Veterinary dermatology · 2026Article
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Identification of Genomic Signatures in Bullmastiff Dogs Using Composite Selection Signals Analysis of 23 Purebred Clades.Animals : an open access journal from MDPI · 2023Article
- Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.Veterinary sciences · 2022Review
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.G3 (Bethesda, Md.) · 2022Article
- Article
- A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.Molecular genetics and genomics : MGG · 2021Article
- Article
- A structural UGDH variant associated with standard Munchkin cats.BMC genetics · 2020Article
- NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy.Veterinary medicine and science · 2019Article
- Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID).BMC genomics · 2017Article
- A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.PloS one · 2017Article
- Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome.BMC genomics · 2016Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ichthyoses are a group of various different types of hereditary disorders affecting skin cornification. They are characterized by hyperkeratoses of different severity levels and are associated with a dry and scaling skin. Genome-wide association analysis of nine affected and 13 unaffected Great Danes revealed a genome-wide significant peak on chromosome 9 at 57-58 Mb in the region of SLC27A4. Sequence analysis of genomic DNA of SLC27A4 revealed the non-synonymous SNV SLC27A4:g.8684G>A in perfect association with ichthyosis-affection in Great Danes. The mutant transcript of SLC27A4 showed an in-frame loss of 54 base pairs in exon 8 probably induced by a new splice acceptor site motif created by the mutated A- allele of the SNV. Genotyping 413 controls from 35 different breeds of dogs and seven wolves revealed that this mutation could not be found in other populations except in Great Danes. Affected dogs revealed high amounts of mutant transcript but only low levels of the wild type transcript. Targeted analyses of SLC27A4 protein from skin tissues of three affected and two unaffected Great Danes indicated a markedly reduced or not detectable wild type and truncated protein levels in affected dogs but a high expression of wild type SLC27A4 protein in unaffected controls. Our data provide evidence of a new splice acceptor site creating SNV that results in a reduction or loss of intact SLC27A4 protein and probably explains the severe skin phenotype in Great Danes. Genetic testing will allow selective breeding to prevent ichthyosis-affected puppies in the future.
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