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Full-Text Articles in Life Sciences
Circadian Clock Locus Frequency: Protein Encoded By A Single Open Reading Frame Defines Period Length And Temperature Compensation., Benjamin D. Aronson, Keith A. Johnson, Jay C. Dunlap
Circadian Clock Locus Frequency: Protein Encoded By A Single Open Reading Frame Defines Period Length And Temperature Compensation., Benjamin D. Aronson, Keith A. Johnson, Jay C. Dunlap
Dartmouth Scholarship
The frequency (frq) locus encodes a key component, a state variable, in a cellular oscillator generating circadian rhythmicity. Two transcripts have been mapped to this region, and data presented here are consistent with the existence of a third transcript. Analysis of cDNA clones and clock mutants from this region focuses attention on one transcript encoding a protein. FRQ, which is a central clock component: (i) mutations in all of the semidominant frq alleles are the result of single amino acid substitutions and map to the open reading frame (ORF) encoding FRQ; (ii) deletion of this ORF, or a frameshift mutation …
Cystic Fibrosis Transmembrane Conductance Regulator Mutations That Disrupt Nucleotide Binding, James Logan, David Hiestand, Paru Daram, Zhen Huang, Donald D. Muccio, John Hartman, Boyd Haley, William J. Cook, Eric J. Sorscher
Cystic Fibrosis Transmembrane Conductance Regulator Mutations That Disrupt Nucleotide Binding, James Logan, David Hiestand, Paru Daram, Zhen Huang, Donald D. Muccio, John Hartman, Boyd Haley, William J. Cook, Eric J. Sorscher
Molecular and Cellular Biochemistry Faculty Publications
Increasing evidence suggests heterogeneity in the molecular pathogenesis of cystic fibrosis (CF). Mutations such as deletion of phenylalanine at position 508 (delta F508) within the cystic fibrosis transmembrane conductance regulator (CFTR), for example, appear to cause disease by abrogating normal biosynthetic processing, a mechanism which results in retention and degradation of the mutant protein within the endoplasmic reticulum. Other mutations, such as the relatively common glycine-->aspartic acid replacement at CFTR position 551 (G551D) appear to be normally processed, and therefore must cause disease through some other mechanism. Because delta F508 and G551D both occur within a predicted nucleotide binding …