Chromosome Y genetic variants: impact in animal models and on human disease

摘要: Chromosome Y (chrY) variation has been associated with many complex diseases ranging from cancer to cardiovascular disorders. Functional roles of chrY genes outside testes are suggested by the fact that they broadly expressed in other tissues and correspond regulators basic cellular functions (such as transcription, translation, protein stability). However, unique genetic properties (including lack meiotic crossover presence numerous highly repetitive sequences) have made identification causal variants very difficult. Despite prior reliable sequences and/or data on polymorphisms, earlier studies animal consomic strains it possible narrow down phenotypic contributions chrY. Some evidence so far indicates gene associate regulatory changes expression autosomal genes, part via epigenetic effects. In humans, a limited number shown associations between haplotypes disease traits. recent sequencing efforts greatly increase chrY, which promises future association traits will be further refined. Continuing (both humans models) critical help explain sex-biased states human contributed not only classical sex steroid hormones, but also genetics.