Human genetic studies have shown that the human leukocyte antigen (HLA) gene on chromosome 6p21 is the most important genetic factor for MS and SLE3. In MS, the HLA- DR15 haplotype (DRB1*1501-DQA1*0102-DQB1*0602) and its individual alleles appear to have the main role in Caucasians4....
Ages of selective sweeps suggest that live-bearer-specific alleles accumulated over more than 200,000 generations. Our results suggest that new functions evolve through the recruitment of many alleles rather than in a single evolutionary step. ...
and show widespread expression.14 The wild-type alleles of these genes subserve a myriad of An inference from these observations is that a mutation cellular functions that span the gamut from transcription in any gene, no matter how widely expressed in the factors to extracellular matrix proteins...
UK BiLEVE Axiom in the first 50,000 individuals66, and with Affimetrix UK Biobank Axiom array in the remaining participants67; 95% of the signals overlap in both chips. Imputation was performed by Wellcome Trust Centre for Human Genetics using a combination of 1000Genomes phase 368, UK10K69an...
The TTN gene codes for the largest protein in the human body, titin, which is involved in regulating the organization of the cytoskeleton in cardiomyocytes. The protein also interacts directly with the CAPN3 protein, which is involved in the organization of the extracellular matrix. Therefore, ...
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