title: IMP dehydrogenase-linked retinitis pigmentosa.
abstract: Many retinal diseases are caused by mutations in photoreceptor-specific proteins. However, retinal disease can also result from mutations in widely expressed proteins. One such protein is inosine monophosphate dehydrogenase type 1 (IMPDH1), which catalyzes a key step in guanine nucleotide biosynthesis and also binds single-stranded nucleic acids. The pathogenic IMPDH1 mutations are in or near the CBS domains and do not affect enzymatic activity. However, these mutations do decrease the affinity and specificity of single-stranded nucleic acid binding. These observations suggest that IMPDH1 has a previously unappreciated role in RNA metabolism that is crucial for photoreceptor function.
authors.affiliation: Department of Chemistry, Brandeis University, Waltham, Massachusetts, USA. hedstrom@brandeis.edu
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Hedstrom
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D004277:DNA, Single-Stranded / Q000378:metabolism; D006801:Humans; D007168:IMP Dehydrogenase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism
chemical_list: D004277:DNA, Single-Stranded; D012333:RNA, Messenger; D007168:IMP Dehydrogenase