Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia

Gene

Volumn 352, Issue 1-2, 2005, Pages 10-19

  Zhou, Jie ^a   Young, Terri L ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Bioinformatics; DNA sequence analysis; Gene expression; Gene structure; Single nucleotide polymorphism

Indexed keywords

AMINO ACID; LIPIN 2; NUCLEOTIDE; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN TISSUE; CONTROLLED STUDY; CORNEA; DISEASE ASSOCIATION; EVALUATION; EXON; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEART; HETEROZYGOTE; HIGH MYOPIA; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRON; KIDNEY PARENCHYMA; LENS; LUNG PARENCHYMA; MOUSE; MUSCLE TISSUE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC NERVE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RETINA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSLATION; SCLERA; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE; UBIQUITINATION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BINDING SITES; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; GENE EXPRESSION PROFILING; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; MYOPIA; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 20444390464     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.02.019     Document Type: Article

References (24)

1. J. Blohme, and K. Tornqvist Visual impairment in Swedish children: III. Diagnoses Acta Ophthalmol. Scand. 75 1997 681 687
2. S.Y. Cohen, A. Laroche, Y. Leguen, G. Soubrane, and G.J. Coscas Etiology of choroidal neovascularization in young patients Ophthalmology 103 1996 1241 1244
3. L. Erkman Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development Nature 381 1996 603 606
4. L. Erkman A POU domain transcription factor-dependent program regulates axon pathfinding in the vertebrate visual system Neuron 28 3 2000 779 792
5. D.C. Fingar, and J. Blenis Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression Oncogene 23 2004 3151 3171
6. L. Foerst-Potts, and T.W. Sadler Disruption of Msx-1 and Msx-2 reveals roles for these genes in craniofacial, eye, and axial development Dev. Dyn. 209 1997 70 84
7. J.A. Guggenheim, G. Kirov, and S.A. Hodson The heritability of high myopia: a reanalysis of Goldschmidt's data J. Med. Genet. 37 2000 227 231
8. S. Heath A novel approach to search for identity by descent in small samples of patients and controls from the same Mendelian breeding unit: a pilot study on myopia Hum. Hered. 52 2001 183 190
9. J. Katz, J.M. Tielsch, and A. Sommer Prevalence and risk factors for refractive errors in an adult inner city population Investig. Ophthalmol. Vis. Sci. 38 1997 334 340
10. D.S. Lam, P.O. Tam, D.S. Fan, L. Baum, Y.F. Leung, and C.P. Pang Familial high myopia linkage to chromosome 18p Ophthalmologica 217 2003 115 118
11. W. Liu, J.H. Wang, and M. Xiang Specific expression of the LIM/homeodomain protein Lim-1 in horizontal cells during retinogenesis Dev. Dyn. 217 2000 320 325
12. C.A. McCarty, P.M. Livingston, and H.R. Taylor Prevalence of myopia in adults: implications for refractive surgeons J. Refract. Surg. 13 1997 229 234
13. L. Naiglin A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36 J. Med. Genet. 39 2002 118 124
14. P. Paluru New locus for autosomal dominant high myopia maps to the long arm of chromosome 17 Investig. Ophthalmol. Vis. Sci. 44 2003 1830 1836
15. M. Peterfy, J. Phan, P. Xu, and K. Reue Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin Nat. Genet. 27 2001 121 124
16. C.L. Pressman, H. Chen, and R.L. Johnson A LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye Genesis 26 2000 15 25
17. Roberts, J., 1978. Refraction status and motility defects of persons 4-74 years, United States, 1971-1972. Vital and Health Statistics: Series 11, Data from the National Health Survey; no. 206 DHEW Publication No. (PHS) 78-1654. Hyattsville, MD: National Center for Health Statistics.
18. S.M. Saw Prevalence rates of refractive errors in Sumatra, Indonesia Investig. Ophthalmol. Vis. Sci. 43 2002 3174 3180
19. G.S. Scavello, P.C. Paluru, W.R. Ganter, and T.L. Young Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia Investig. Ophthalmol. Vis. Sci. 45 2004 2091 2097
20. M. Schwartz, M. Haim, and D. Skarsholm X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq Clin. Genet. 38 1990 281 286
21. T.Y. Wong Prevalence and risk factors for refractive errors in adult Chinese in Singapore Investig. Ophthalmol. Vis. Sci. 41 2000 2486 2494
22. T.L. Young Evidence that a locus for familial high myopia maps to chromosome 18p Am. J. Hum. Genet. 63 1998 109 119
23. T.L. Young A second locus for familial high myopia maps to chromosome 12q Am. J. Hum. Genet. 63 1998 1419 1424
24. T.L. Young Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis Ophthalmic Genet. 22 2001 69 75