Abstract
LAH 2 is a type of autosomal recessive hypotrichosis that affect hairs, eyebrows, scalp and eyelashes. Mutations in Lipase H gene result in LAH 2. Changes that result from mutation on physiochemical properties, post-translational modifications, functional sites, secondary structure and tertiary structure lipase H gene (LIPH) at molecular level were analyzed in the current study. Results indicate that the 3rd motif of LIPH deletes as a result of mutation. The number of alpha helices and beta sheets become varied in normal and abnormal protein. Tertiary structure of LIPH was predicted through homology modeling. Mutations were then inserted to reveal the difference between normal and abnormal structure. Ligands to target LIPH are also retrieved. ASP178, ASP207 and HIS248 constitute the active site of LIPH. Missense mutations in LIPH also brought drastic changes at molecular level that led to imbalanced function. All these changes can be studied through bioinformatics without going for expensive laborious and time consuming experimental techniques. Key words: LAH2, LIPH, tertiary structure, secondary structure, physiochemical properties, ligands, active site.
Highlights
Autosomal recessive hypotrichosis (AH) is a form of hypotrichosis that is characterized by a condition of having no hair growth and total baldness of the affected area that remains unchanged throughout the life of an affected individual
Active sites were predicted by giving input of predicted tertiary structure of lipase H gene (LIPH) to PAR3D and ligands were retrieved from KEGG ligand database
No effect of mutation was predicted in N-glycosylation, cAMP- and cGMP-dependent protein kinase phosphorrylation site, protein kinase C phosphorylation site and Casein kinase II phosphorylation sites in LIPH
Summary
Autosomal recessive hypotrichosis (AH) is a form of hypotrichosis (an inherited hair ailment) that is characterized by a condition of having no hair growth and total baldness of the affected area that remains unchanged throughout the life of an affected individual. It affects an individual right from birth and usually continues throughout their lives. While in LAH 2, normal beard is present in affected males (Aslam et al, 2004). In some of the cases disease is characterized by lack of normal hair follicle structures and comedo-like leftovers of the hair follicle.
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