HMB265H1 Lecture Notes - Lecture 16: Retinitis Pigmentosa, Genome Editing, Cas9

• School: UTSG
• Department: Human Biology
• Course: HMB265H1
• Professor: Maria Papaconstantinou

Document Summary

The new frontier of genome engineering with crispr-cas9. Vision commences with activation of rhodopsin in photoreceptor cells of eye. Retinal degenerative disease - one of the most common disease for blindness. Mutations in over 100 genes linked to this - 1/4000 affected. Rhodopsin mutations account for 25-30% of all autosomal dom rp cases. Many have normal vision until they"re adults - deteriorates at this point. After diagnosis: 100% chance of legal blindness later in life. Rhodopsin itself is a 7 transmembrane gpcr - many members in this family. Major way a cell communicates with the outside world. Disease mutations interfere with rhodopsin function and folding. Rhodopsin for night, other proteins in cones for colour - rgb proteins. These three pigments are sensitive to different wavelengths of light to create colour vision. All have similar structures - all gpcr, all from a primordial gene.