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Originally published In Press as doi:10.1167/iovs.08-1715 on March 14, 2008
 (Investigative Ophthalmology and Visual Science. 2008;49:2863-2869.)
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.08-1715
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Genetic Modifiers of Retinal Degeneration in the rd3 Mouse

Michael Danciger,1,2 Diego Ogando,1 Haidong Yang,3 Michael T. Matthes,3 Nicole Yu,1 Kelly Ahern,3 Douglas Yasumura,3 Robert W. Williams,4 and Matthew M. LaVail3

1From the Department of Biology, Loyola Marymount University, Los Angeles, California; 2The Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California; the 3Beckman Vision Center, UCSF School of Medicine, San Francisco, California; and the 4Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee.

PURPOSE. In previous studies of light-induced (LRD) and age-related (ageRD) retinal degeneration (RD) between the BALB/cByJ (BALB) and B6(Cg)-Tyrc-2J/J (B6a) albino mouse strains, RD-modifying quantitative trait loci (QTLs) were identified. After breeding BALB- and B6a-rd3/rd3 congenic strains and finding significant differences in RD, an F1 intercross to determine rd3 QTLs that influence this inherited RD was performed.

METHODS. N10, F2 BALB- and B6a-rd3/rd3 strains were measured for retinal outer nuclear layer (ONL) thickness from 5 to 12 weeks of age. Since 10 weeks showed significant differences in the ONL, F2 progeny from an F1 intercross were measured for ONL thickness. F2 DNAs were genotyped for SNPs by the Center for Inherited Disease Research. Correlation of genotype with phenotype was made with Map Manager QTX.

RESULTS. One hundred forty-eight SNPs ~10 cM apart were typed in the F2 progeny and analyzed. Significant QTLs were identified on chromosomes (Chrs) 17, 8, 14, and 6 (B6a alleles protective) and two on Chr 5 (BALB alleles protective). Suggestive QTLs were found as well. For the strongest QTLs, follow-up SNPs were analyzed to narrow the critical intervals. Additional studies demonstrated that rd3 disease is exacerbated by light but not protected by the absence of rhodopsin regeneration.

CONCLUSIONS. QTLs were identified that modulate rd3-RD. These overlapped some QTLs from previous ageRD and LRD studies. The presence of some of the same QTLs in several studies suggests partial commonality in RD pathways. Identifying natural gene/alleles that modify RDs opens avenues of study that may lead to therapies for RD diseases.






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