ArticleGenomics2008
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
Article in Genomics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 32 citations in OpenAlex.
- "Cold" X5 Hairlaser™ used to treat male androgenic alopecia and hair growth: an uncontrolled pilot study.BMC research notes · 2014Trial
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Selection Signatures Reveal Candidate Genes for the Cornish Rex Breed-Specific Phenotype.Genes · 2024Article
- Autotaxin⁻Lysophosphatidic Acid Signaling in Alzheimer's Disease.International journal of molecular sciences · 2018Review
- Promising pharmacological directions in the world of lysophosphatidic Acid signaling.Biomolecules & therapeutics · 2015Review
- In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.PloS one · 2014Article
- To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.PloS one · 2013Article
- A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.Journal of human genetics · 2011Article
- Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6.The Journal of biological chemistry · 2009Article
- Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.Experimental dermatology · 2009Article
- The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.Human heredity · 2009Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
While there have been significant advances in understanding the genetic etiology of human hair loss over the previous decade, there remain a number of hereditary disorders for which a causative gene has yet to be identified. We studied a large, consanguineous Brazilian family that presented with woolly hair at birth that progressed to severe hypotrichosis by the age of 5, in which 6 of the 14 offspring were affected. After exclusion of known candidate genes, a genome-wide scan was performed to identify the disease locus. Autozygosity mapping revealed a highly significant region of extended homozygosity (lod score of 10.41) that contained a haplotype with a linkage lod score of 3.28. Results of these two methods defined a 9-Mb region on chromosome 13q14.11-q14.2. The interval contains the P2RY5 gene, in which we recently identified pathogenic mutations in several families of Pakistani origin affected with autosomal recessive woolly and sparse hair. After the exclusion of several other candidate genes, we sequenced the P2RY5 gene and identified a homozygous mutation (C278Y) in all affected individuals in this family. Our findings show that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly hair, and underscore the essential role of P2RY5 in the tissue integrity and maintenance of the hair follicle.
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Registered trials
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.