Color Blindness

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Slide 8

Mutation…

The genetic basis for achromatopsia is found on chromosome 8 (location 8q21-q22) where there is a recessive point mutation in CNGB3 that changes serine at residue 435 to phenylalanine in a highly conserved site in the S6 membrane-spanning domain.

Slide 9

Bibliography

Bookshelf:

Samir S Deeb, PhD, Arno G Motulsky, MD, “Red-Green Color Vision Defects,” GeneReviews, September 19, 2005.

Berg, Jeremy M. “32.3.5. Rearrangements in the Genes for the Green and Red Pigments Lead to ‘Color Blindness,’” Biochemistry 5th edition, W.H. Freeman and Company, 2002.

OMIM:

“COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD”

OMIM ID: 303800

PubMed:

Harrison, R.; Hoefnagel, D.; Hayward, J. N. “Congenital total color blindness.” Arch. Ophthal. 64: 685-692, 1960. PubMed ID: 13711836

Botstein, D. “The molecular biology of color vision.” (Editorial) Science 232: 142-143, 1986. PubMed ID: 2937146

Reyniers, E.; Van Thienen, M.-N.; Meire, F.; De Boulle, K.; Devries, K.; Kestelijn, P.; Willems, P. J. “Gene conversion between red and defective green opsin gene in blue cone monochromacy.” Genomics 29: 323-328, 1995. PubMed ID: 8666378

Winderickx, J.; Sanocki, E.; Lindsey, D. T.; Teller, D. Y.; Motulsky, A. G.; Deeb, S. S. :

“Defective colour vision associated with a missense mutation in the human green visual pigment gene.” Nature Genet. 1: 251-256, 1992. PubMed ID: 1302020