5-HT2C Receptor - Genetics

Genetics

Many human polymorphisms have been identified influencing the expression of 5-HT_2C. Significant correlations are suggested, specifically in relation to psychiatric disorders such as depression, OCD, and anxiety-related conditions. Polymorphisms also correlate with susceptibility to a number of conditions including drug abuse and obesity. There are indications that the alternative splicing of the 5-HT_2C receptor is regulated by a snoRNA called SNORD115, the deletion of which is associated with Prader–Willi syndrome. As the human gene is located in the X chromosome, males have only one copy of the gene whereas women have two, meaning that mutations in the gene affect the phenotype of men even when the allele would be recessive in nature. As women have two copies of the gene, but only one allele is expressed in each cell, they are a mosaic for polymorphisms, meaning that one genetic variant may be prevalent in one tissue and another variant will be prevalent in a different tissue (as with all other x-linked genetic variations).