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Full-Text Articles in Biochemistry
The Biochemical Characterization Of Human Histidyl-Trna Synthetase And Disease Associated Variants, Jamie Alyson Abbott
The Biochemical Characterization Of Human Histidyl-Trna Synthetase And Disease Associated Variants, Jamie Alyson Abbott
Graduate College Dissertations and Theses
Human histidyl-tRNA synthetase (HARS) is an aminoacyl-tRNA synthetase (AARS) that catalyzes the attachment of the amino acid histidine to histidyl-tRNA (tRNAHis) in a two-step reaction that is essential for protein translation. Currently, two human diseases, Usher Syndrome IIIB (USH3B) and an inherited peripheral neuropathy, Charcot Marie Tooth Syndrome (CMT), have been linked genetically to single point mutations in the HARS gene. The recessive HARS USH3B mutation encodes an Y454S substitution localized at the interface between the anticodon-binding domain and the catalytic domain of the opposing subunit. Patients with Usher Syndrome IIIB lose their sight and hearing during their second decade …