ArticleAmerican journal of human genetics2013
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Article in American journal of human genetics, 2013. 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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17 citing papers in PubMed, 39 citations in OpenAlex.
- Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis.The Australasian journal of dermatology · 2025Review
- Article
- A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.Cold Spring Harbor molecular case studies · 2022Article
- Emerging roles of spliceosome in cancer and immunity.Protein & cell · 2022Review
- Variants inHGG advances · 2021Article
- AGenes · 2021Article
- A Nonsense Variant in Hephaestin Like 1 (Genes · 2021Article
- Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.Nature communications · 2020Article
- Disease modeling of core pre-mRNA splicing factor haploinsufficiency.Human molecular genetics · 2019Article
- A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.PLoS genetics · 2019Article
- Genetic Hair Disorders: A Review.Dermatology and therapy · 2019Review
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.American journal of human genetics · 2018Article
- Variant snRNPs: New players within the spliceosome system.RNA biology · 2018Review
- [Alopecia and hypotrichosis in childhood: clinical features and diagnosis].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2014Article
- Article
- Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.Advances in experimental medicine and biology · 2014Review
- To grow or not to grow: hair morphogenesis and human genetic hair disorders.Seminars in cell & developmental biologyReview
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Authors and funding
16 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By direct sequencing, we identified the heterozygous mutation c.1A>G (p.Met1?) in SNRPE that results in loss of the start codon of the transcript. We identified the same mutation in a simplex HS case from the UK and an additional mutation (c.133G>A [p.Gly45Ser]) in a simplex HS case originating from Tunisia. SNRPE encodes a core protein of U snRNPs, the key factors of the pre-mRNA processing spliceosome. The missense mutation c.133G>A leads to a glycine to serine substitution and is predicted to disrupt the structure of SNRPE. Western blot analyses of HEK293T cells expressing SNRPE c.1A>G revealed an N-terminally truncated protein, and therefore the mutation might result in use of an alternative in-frame downstream start codon. Subcellular localization of mutant SNRPE by immunofluorescence analyses as well as incorporation of mutant SNRPE proteins into U snRNPs was found to be normal, suggesting that the function of U snRNPs in splicing, rather than their biogenesis, is affected. In this report we link a core component of the spliceosome to hair loss, thus adding another specific factor in the complexity of hair growth. Furthermore, our findings extend the range of human phenotypes that are linked to the splicing machinery.
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