The L:M cone ratio in males of African descent with normal color vision. J Vis 2008 Feb 20;8(2):5.1-9
Date
03/06/2008Pubmed ID
18318631Pubmed Central ID
PMC2431169DOI
10.1167/8.2.5Scopus ID
2-s2.0-39749149729 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
Among Caucasian males with normal color vision, long-wavelength-sensitive (L) cones outnumber middle-wavelength-sensitive (M) cones by nearly three to one, on average, and the L and the M cone opsin genes are arrayed on the X-chromosome with the L opsin gene being closest to an upstream enhancer element termed the locus control region (LCR). Interaction between an opsin gene promoter and the LCR is required to mediate normal opsin gene expression, and the relative proximity of the L opsin gene promoter (4,000 base pairs for L compared to 40,000 base pairs for the M opsin gene promoter) has been proposed to endow the L gene with the advantage in competing for interaction with the LCR, thereby accounting for the nearly 3:1 ratio of L:M cones. This proximal advantage hypothesis predicts that the L:M cone ratio will be similar among populations that share the same X-chromosome opsin gene array organization. Here, we tested this hypothesis by examining a sample of males of African descent and found them to have a significantly different average L:M ratio compared to Caucasian males, even though their X-chromosome opsin gene arrays were indistinguishable from arrays in males of Caucasian descent. How these observations might be reconciled is discussed.
Author List
McMahon C, Carroll J, Awua S, Neitz J, Neitz MAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Chromosomes, Human, X
Color Perception
Electroretinography
Genetic Variation
Humans
Male
Polymerase Chain Reaction
RNA, Messenger
Retinal Cone Photoreceptor Cells
Rod Opsins
United States
