Differential stability of variant OPN1LW gene transcripts in myopic patients

• Published in: Molecular vision Vol. 25; no. 1; pp. 183 - 193
• Main Authors: Mountford, Jessica K, Davies, Wayne I L, Griffiths, Lyn R, Yazar, Seyhan, Mackey, David A, Hunt, David M
• Format: Journal Article
• Language: English
• Published: United States Molecular Vision 2019
• Subjects: Adult; Australia; Case-Control Studies; Cloning, Molecular; Eye diseases; Gene Expression; Genetic Variation; Genetic Vectors - chemistry; Genetic Vectors - metabolism; HEK293 Cells; Humans; Islands; Male; Myopia; Myopia - diagnosis; Myopia - genetics; Myopia - physiopathology; Nucleic Acid Conformation; OPN1LW opsin gene; Opsins; Photoreceptors; Pregnancy; Protein structure; Recombinant Proteins - chemistry; Recombinant Proteins - genetics; Recombinant Proteins - metabolism; Ribonucleic acid; RNA; RNA Splicing; RNA Stability; RNA, Messenger - chemistry; RNA, Messenger - genetics; RNA, Messenger - metabolism; Rod Opsins - deficiency; Rod Opsins - genetics; Secondary structure; Sequence Analysis, DNA; Splicing; Transcription; Australia

In Bornholm eye disease, a defect in the splicing of transcripts from a variant opsin gene leads to a depletion in spliced transcript levels and, consequently, a reduction in photopigment in photoreceptors expressing the variant gene. Myopic and age-matched control subjects were drawn from the Weste...