Topic
LPAR6
About: LPAR6 is a research topic. Over the lifetime, 57 publications have been published within this topic receiving 2472 citations. The topic is also known as: ARWH1 & HYPT8.
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TL;DR: The potential of LPA receptor subtypes and related signaling mechanisms to provide novel therapeutic targets are underscored.
545 citations
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TL;DR: This study is the first to implicate a G protein–coupled receptor as essential for and specific to the maintenance of human hair growth, and may provide opportunities for new therapeutic approaches to the treatment of hair loss in humans.
Abstract: Hypotrichosis simplex is a group of nonsyndromic human alopecias. We mapped an autosomal recessive form of this disorder to chromosome 13q14.11-13q21.33, and identified homozygous truncating mutations in P2RY5, which encodes an orphan G protein-coupled receptor. Furthermore, we identified oleoyl-L-alpha-lysophosphatidic acid (LPA), a bioactive lipid, as a ligand for P2Y5 in reporter gene and radioligand binding experiments. Homology and studies of signaling transduction pathways suggest that P2Y5 is a member of a subgroup of LPA receptors, which also includes LPA4 and LPA5. Our study is the first to implicate a G protein-coupled receptor as essential for and specific to the maintenance of human hair growth. This finding may provide opportunities for new therapeutic approaches to the treatment of hair loss in humans.
388 citations
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TL;DR: It is reported that p2y5 is a novel LPA receptor coupling to the G13-Rho signaling pathway and proposed to designate this receptor LPA6.
247 citations
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TL;DR: It is indicated that disruption of P2RY5 underlies ARWH and, more broadly, a new gene involved in determining hair texture in humans is uncovered.
Abstract: The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only rarely been reported. To identify a gene involved in controlling hair texture, we performed genetic linkage analysis in six families of Pakistani origin with autosomal recessive woolly hair (ARWH; OMIM 278150). All six families showed linkage to chromosome 13q14.2-14.3 (Z = 17.97). In all cases, we discovered pathogenic mutations in P2RY5, which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 (RB1) gene. P2RY5 is expressed in both Henle's and Huxley's layers of the inner root sheath of the hair follicle. Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans.
208 citations
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TL;DR: A gene mutation in families who show an inherited form of hair loss and a hair growth defect is identified, suggesting that lipase H participates in hair growth and development.
Abstract: The molecular mechanisms controlling human hair growth and scalp hair loss are poorly understood. By screening about 350,000 individuals in two populations from the Volga-Ural region of Russia, we identified a gene mutation in families who show an inherited form of hair loss and a hair growth defect. Affected individuals were homozygous for a deletion in the LIPH gene on chromosome 3q27, caused by short interspersed nuclear element–retrotransposon–mediated recombination. The LIPH gene is expressed in hair follicles and encodes a phospholipase called lipase H (alternatively known as membrane-associated phosphatidic acid–selective phospholipase A1α), an enzyme that regulates the production of bioactive lipids. These results suggest that lipase H participates in hair growth and development.
197 citations