A recurrent Missense Mutation in the Lpar6 Gene Underlies Hereditary Hypotrichosis. | [Pure and Applied Biology • 2017]

Author(s):

1. Zarlashta Sharif: Institute of Biochemistry, Faculty of Life Sciences, University of Baluchistan, Quetta-Pakistan

2. Sheikh Ahmed: Institute of Biochemistry, Faculty of Life Sciences, University of Baluchistan, Quetta-Pakistan

3. Fazalur Rehman: Department of Microbiology, Faculty of Life Sciences, University of Baluchistan, Quetta-Pakistan

4. Ashif Sajjad: Institute of Biochemistry, Faculty of Life Sciences, University of Baluchistan, Quetta-Pakistan

5. Muhammad Ayub: Institute of Biochemistry, Faculty of Life Sciences, University of Baluchistan, Quetta-Pakistan

Abstract:

Hypotrichosis is a heritable condition described by sparse hairs, sparse to absent eyebrows, eyelashes, axillary, and body hair, but with normal teeth and nails. Genotyping was carried out of family from fourth generation from district Sibi, Balochistan, having two affected males and one female. Genotyping was done targeting LPAR6-linked microsatellite markers present on chromosome 13q14.11-q21.32. The exon located on LPAR6 gene, were amplified of both affected and normal individuals of the family revealing linkage at locus on chromosome 13. Sequencing result of the LPAR6, shown a recurrent missense mutation c.436G>A, p. G146R) in a family. A recurrent missense mutation revealed in the current investigation encompass the evidence of LPAR6 gene hereditary hypotrichosis.

Page(s): 685-690

DOI: 10.19045/bspab.2017.60072

Published: Journal: Pure and Applied Biology, Volume: 6, Issue: 2, Year: 2017

Keywords:

Hereditary hypotrichosis , LPAR6 gene , Missense mutation

References:

[1] .proof implicating the LPAR6 gene in hereditary hypotrichosis emphasizing the role of GPCR together with LIPH in regulating hair growth cycle, -

[2] InoueA,ArimaN,IshiguroJ, 2011.LPA-producing enzyme PA-PLAalpha regulates hair follicle development by modulating EGFR signalling,EMBO J 30 4248 -4260

[3] JelaniM,WasifN,AliG,ChishtiMS,AhmadW, 2008.A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2),Clin Genet 74 184 -188

[4] KazantsevaA,GoltsovA,ZinchenkoR,GrigorenkoAP,AbrukovaAV,MoliakaYK,KirillovAG,GuoZ,LyleS,GinterEK,RogaevEI, 2006.Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH,Science 314 982 -985

[5] ShimomuraY,WajidM,IshiiY,ShapiroL,PetukhovaL,GordonD,ChristianoAM, 2008.Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair,Nat Genet 40 335 -339

[6] WebbTE,KaplanMG,BarnardEA, 1996.Identification of 6H1 as a P2Y purinoceptor: P2Y5,Biochem Biophys Res Commun 219 105 -110

[7] PasternackSM,MurugusundramS,EigelshovenS,MüllerM,KruseR,LehmannP,BetzRC, 2009.Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair,Arch Dermatol Res 301 621 -624

[8] StavrakaC,Blagden S, 2015.The La-related proteins, a family with connections to cancer,Biomolecules 5 2701 -2722

[9] Bousquet-AntonelliC,Deragon JM, 2009.A comprehensive analysis of the La-motif protein superfamily,RNA 15 750 -764

[10] CaiL,FritzD,StefanovicL,StefanovicB, 2010.Nonmuscle myosin-dependent synthesis of type I collagen,J Mol Biol 401 564 -578

[11] ManojlovicZ,BlackmonJ,StefanovicB, 2013.Tacrolimus (FK506) prevents early stages of ethanol induced hepatic fibrosis by targeting LARP6 dependent mechanism of collagen synthesis,PLoS ONE 8 e65897 -

[12] ShinkumaS,AkiyamaM,InoueA, 2010.Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis,Hum Mutat 31 602 -610

[13] HerzogH,DarbyK,HortYJ,ShineJ, 1996.Intron 17 of the human retinoblastoma susceptibility gene encodes an actively transcribed G protein-coupled receptor gene,Genome Res 6 858 -861

[14] KazantsevaA,GoltsovA,ZinchenkoR,GrigorenkoAP,AbrukovaAV,MoliakaYK,KirillovAG,GuoZ,LyleS,GinterEK,RogaevEI, 2006.Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH,Science 314 982 -985

[15] ShimomuraY,GarzonMC,KristalL,ShapiroL,ChristianoAM, 2009.Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene,Exp Dermatol 18 218 -2211

[16] PasternackSM,von KügelgenI,AboudKA,LeeYA,RüschendorfF,VossK,HillmerAM,MolderingsGJ,FranzT,RamirezA,NürnbergP,NöthenMM,BetzRC, 2008.G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth,Nat Genet 40 329 -334

[17] ShimomuraY,WajidM,PetukhovaL,ShapiroL,ChristianoAM, 2009.Mutations in the Lipase H (LIPH) gene underlie autosomal recessive woolly hair/hypotrichosis,J Invest Dermatol 129 622 -628

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