Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

ABSTRACT: Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that

SUBMITTER: Fu R 

PROVIDER: S-EPMC3999711 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature