Genetic modifier loci of mouse Mfrprd6 identified by quantitative trait locus analysis

Ayala-Ramírez, 2006, A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation, Mol. Vis., 12, 1483 Ayuso, 2010, Retinitis pigmentosa and allied conditions today: a paradigm of translational research, Genome Med., 2, 34, 10.1186/gm155 Ayuso, 1996, Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients, Hum. Genet., 98, 51, 10.1007/s004390050158 Bandah-Rozenfeld, 2010, Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa, Am. J. Hum. Genet., 87, 382, 10.1016/j.ajhg.2010.07.022 Berson, 2001, Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1), Investig. Ophthalmol. Vis. Sci., 42, 2217 Berson, 1991, Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His), Arch. Ophthalmol., 109, 92, 10.1001/archopht.1991.01080010094039 Berson, 1991, Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine, Am. J. Ophthalmol., 111, 614, 10.1016/S0002-9394(14)73708-0 Broman, K.W., Sen, S., 2009. Springer, New York. Broman, 2003, R/qtl: QTL mapping in experimental crosses, Bioinformatics, 19, 889, 10.1093/bioinformatics/btg112 Chang, 2002, Retinal degeneration mutants in the mouse, Vis. Res., 42, 517, 10.1016/S0042-6989(01)00146-8 Chang, 2013, Survey of common eye diseases in laboratory mouse strains, Investig. Ophthalmol. Vis. Sci., 54, 4974, 10.1167/iovs.13-12289 Chang, 2007, A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family, Mol. Vis., 13, 1548 Crespí, 2008, A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen, Am. J. Ophthalmol., 146, 323, 10.1016/j.ajo.2008.04.029 Daiger, 2007, Perspective on genes and mutations causing retinitis pigmentosa, Arch. Ophthalmol., 125, 151, 10.1001/archopht.125.2.151 Danciger, 2008, Genetic modifiers of retinal degeneration in the rd3 mouse, Investig. Ophthalmol. Vis. Sci., 49, 2863, 10.1167/iovs.08-1715 Doerge, 1996, Permutation tests for multiple loci affecting a quantitative character, Genetics, 142, 285, 10.1093/genetics/142.1.285 Dryja, 1990, A point mutation of the rhodopsin gene in one form of retinitis pigmentosa, Nature, 343, 364, 10.1038/343364a0 Fahim, 2011, Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations, PLoS One, 6, e23021, 10.1371/journal.pone.0023021 Ferrari, 2011, Retinitis pigmentosa: genes and disease mechanisms, Curr. Genomics, 12, 238, 10.2174/138920211795860107 Fogerty, 2011, 174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy, Investig. Ophthalmol. Vis. Sci., 52, 7256, 10.1167/iovs.11-8112 Genin, 2008, Identifying modifier genes of monogenic disease: strategies and difficulties, Hum. Genet., 124, 357, 10.1007/s00439-008-0560-2 Hageman, 2005, A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration, Proc. Natl. Acad. Sci. U. S. A., 102, 7227, 10.1073/pnas.0501536102 Haider, 2002, Genetic modifiers of vision and hearing, Hum. Mol. Genet., 11, 1195, 10.1093/hmg/11.10.1195 Haider, 2008, Mapping of genetic modifiers of Nr2e3rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity, Mamm. Genome, 19, 145, 10.1007/s00335-008-9092-2 Hamilton, 2012, Modifier genes and the plasticity of genetic networks in mice, PLoS Genet., 8, e1002644, 10.1371/journal.pgen.1002644 Hawes, 2000, Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens, Investig. Ophthalmol. Vis. Sci., 41, 3149 Ikeda, 2002, Genetic modification of retinal degeneration in Tubby mice, Exp. Eye Res., 74, 455, 10.1006/exer.2001.1139 Jacobson, 2000, Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa, Investig. Ophthalmol. Vis. Sci., 41, 1898 Jelcick, 2011, Genetic variations strongly influence phenotypic outcome in the mouse retina, PLoS One, 6, e21858, 10.1371/journal.pone.0021858 Johnson, 2008, Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis, Genetics, 178, 1785, 10.1534/genetics.107.084905 Kameya, 2002, Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6, Hum. Mol. Genet., 11, 1879, 10.1093/hmg/11.16.1879 Katoh, 2001, Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein, Biochem. Biophys. Res. Commun., 282, 116, 10.1006/bbrc.2001.4551 Klein, 2005, Complement factor H polymorphism in age-related macular degeneration, Science, 308, 385, 10.1126/science.1109557 Lander, 1995, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results, Nat. Genet., 11, 241, 10.1038/ng1195-241 Langmann, 2010, Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa, Am. J. Hum. Genet., 87, 376, 10.1016/j.ajhg.2010.07.018 Liu, 2009, The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background, Investig. Ophthalmol. Vis. Sci., 50, 1566, 10.1167/iovs.08-2776 Maddox, 2012, An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice, Investig. Ophthalmol. Vis. Sci., 53, 1663, 10.1167/iovs.11-8871 Mattapallil, 2012, The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes, Investig. Ophthalmol. Vis. Sci., 53, 2921, 10.1167/iovs.12-9662 Mehalow, 2003, CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina, Hum. Mol. Genet., 12, 2179, 10.1093/hmg/ddg232 Mukhopadhyay, 2010, A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy, Mol. Vis., 16, 540 Neri, 2012, Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature, Mol. Vis., 18, 2623 Passerini, 2007, Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene, Eur. J. Ophthalmol., 17, 1000, 10.1177/112067210701700624 Paunescu, 2007, Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame, Ophthalmology, 114, 1348, 10.1016/j.ophtha.2006.10.034 Samardzija, 2006, Rpe65 as a modifier gene for inherited retinal degeneration, Eur. J. Neurosci., 23, 1028, 10.1111/j.1460-9568.2006.04639.x Sullivan, 2006, Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families, Investig. Ophthalmol. Vis. Sci., 47, 3052, 10.1167/iovs.05-1443 Sundin, 2008, Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization, Ophthalmic Genet., 29, 1, 10.1080/13816810701651241 Sundin, 2005, Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein, Proc. Natl. Acad. Sci. U. S. A., 102, 9553, 10.1073/pnas.0501451102 To, 2002, Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His, Am. J. Ophthalmol., 134, 290, 10.1016/S0002-9394(02)01545-3 Tortajada, 2009, The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity, Hum. Mol. Genet., 18, 3452, 10.1093/hmg/ddp289 Venturini, 2012, CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance, PLoS Genet., 8, e1003040, 10.1371/journal.pgen.1003040 Zenteno, 2009, Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex, Mol. Vis., 15, 1794