GSE141384 A direct link between Prss53, hair curvature, and skeletal dysplasia

Contributors : Jichao Deng ; Zhanjun LiSeries Type : Expression profiling by high throughput sequencingOrganism : Oryctolagus cuniculusPRSS53, a member of the membrane-anchored serine proteases, hydrolyzes peptide bonds and is highly expressed in the hair follicle IRS, medulla, precortex and some melanocytes1. Previous studies reported that Prss53 is a psoriasis susceptibility locus and is linked to systemic lupus erythematosus, suggesting its potential roles in skin function2. The Q30R SNP in Prss53 may influence hair shape and is involved in the human variation of head hair shape among different continental groups1. In addition, ENaC activity is regulated by the activity of a channel-activating protease of Prss8 (a homologous gene of Prss53), implying the Prss53 may have an indispensable role in ion channel activity3.The triggering of hair curvature is clearly related to symmetry or asymmetry axis formation in follicles and includes Wnt, TGF β, BMP, Shh and FGFs, etc. In particular, the Wnt/Ca2+ and Wnt/planar cell polarity (PCP) pathways are additional novel mechanisms that affect hair shape4. Furthermore, disruptions in calcium metabolism may contribute to a wide variety of clinical symptoms, including osteoporosis, osteolysis, nephr ocalcinosis and adynamie5.Here, we successfully generated Prss53-deficient rabbits. These rabbits exhibited curved hair, severe skeletal malformation and disrupted calcium metabolism. Altogether, these data suggest that Prss53 play an im...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Oryctolagus cuniculus Source Type: research

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