This dataset consists of scanning electron microscopy (SEM) measurements and sequencing data of two population specific variants; rs11150606 (chr16:g.31087690T>C (hg38) p.Gln30Arg) observed in East Asian (EAS) and Native and Latin Americans and rs201075024 (chr16:g.31087679C>T (hg38 p.Gly34Ser) which is observed exclusively in South Asians (SAS) in PRSS53. These variants are thought to influence hair shape. The samples were subsequently sequenced for the EDAR variant rs3827760 (chr2:g.108897145G>C (hg38p.Val370Ala).
Malaysians (sample size: 99) from different ethnicities were recruited for this study and hair and saliva samples were collected from all the participants, after obtaining informed consent. DNA extracted from saliva samples was genotyped by sequencing a fragment of the PRSS53 gene and EDAR gene. The samples then underwent hair phenotype assessment using a scanning electron microscope (SEM). The images captured were measured for several parameters using ImageJ, and the measurements were tabulated. The SEM images and sequencing files are available with this data set.
Mouse hair samples were obtained from University of Edinburgh and Sanger Institute. These samples consist of a knockout, SAS specific variant and EAS specific variant strains, for the PRSS53 variants. Auchene hair samples were used for the SEM analysis, where the images were analysed with ImageJ, and the data tabulated.