A second gene for cerulean cataracts maps to the β crystallin region on chromosome 22

Genomics

Volumn 35, Issue 3, 1996, Pages 539-542

  Kramer, Patricia ^a,b   Yount, Jennifer ^a   Mitchell, Thomas ^c   LaMorticella, Dante ^b   Carrero Valenzuela, Roque ^b   Lovrien, Everett ^b   Maumenee, Irene ^c   Litt, Michael ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CRYSTALLIN;

ARTICLE; BLINDNESS; CATARACT; CHROMOSOME 17Q; CHROMOSOME 22Q; GENE LOCUS; HUMAN; HUMAN CELL; MARKER GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

GENETTA;

EID: 0030217901     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0395     Document Type: Article

References (25)

1. Armitage, M. M., Kivlin, J. D., and Ferrell, R. E. (1995). A progressive early onset cataract gene maps to human chromosome 17q24. Nature Genet. 9: 37-40.
2. Berry, V., Ionides, C. W., Moore, A. T., Plant, C., Bhattacharya, S. S., and Shiels, A. (1996). A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum. Mol. Genet. 5: 415-419.
3. Bodker, F. S., Lavery, M. A., Mitchell, T. N., Lovrien, E. W., and Maumenee, I. H. (1990). Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts. Am. J. Med. Genet. 37: 54-59.
4. Brakenhoff, R. H., Henskens, H. A. M., Vanrossum, M. W. P. C., Lubsen, N. H., and Schoenmakers, J. G. G. (1994). Activation of the γE-crystallin pseudogene in the human hereditary Coppocklike cataract. Hum. Mol. Genet. 3: 279-283.
5. Cartier, M., Breitman, M. L., and Tsui, L-C. (1992). A frameshift mutation in the γE-crystallin gene of the Elo mouse. Nature Genet. 2: 42-45.
6. Chambers, C., and Russell, P. (1991). Deletion mutation in an Eye lens β-Crystallin: An animal model for inherited cataracts. J. Biol. Chem. 266: 6742-6746.
7. Collins, J. E., Cole, C. G., Smink, L. J., et al. (1995). A high-density YAC contig map of human chromosome 22. Nature 377(Suppl.): 367-379.
8. Cottingham, R. W., Jr., Idury, R. M., and Schaffer, A. A. (1993). Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53: 252-263.
9. Eiberg, H., Marner, E., Rosenberg, T., and Mohr, J. (1988). Marner's cataract (CAM) assigned to chromosome 16: Linkage to haptoglobin. Clin. Genet. 34: 272-275.
10. Eiberg, H., Lund, A. M., Warburg, M., and Rosenberg, T. (1995). Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum. Genet. 96: 33-38.
11. Glaser, T., Jepeal, L., Edwards, J. G., Young, S. R., Favor, J., and Maas, R. L. (1994). PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet. 7: 463-471.
12. Hulsebos, T. J. M., Gilbert, D. J., Delattre, O., Smink, L. J., Dunham, I., Westerveld, A., Thomas, G., Jenkins, N. A., and Copeland, N. G. (1995). Assignment of the βB1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5. Genomics 29: 712-718.
13. Litt, M., Hauge, X. Y., and Sharma, V. (1993). Shadow bands seen when typing polymorphic dinucleotide repeats: Some causes and cures. BioTechniques 15: 280-284.
14. Lubsen, N., Renwick, J., and Schoenmakers, J. (1986). Hereditary cataract: Perspective for prenatal screening. Ophthalmol. Paediatr. Genet. 7: 195-200.
15. Lund, A., Eiberg, H., Rosenburg, T., and Warburg, M. (1992). Autosomal dominant congenital cataract: Linkage relations, clinical and genetic heterogeneity. Clin. Genet. 41: 65-69.
16. Marner, E., Rosenburg, T., and Eiberg, H. (1989). Autosomal dominant congenital cataract. Acta Ophthalmol. 67: 151-158.
17. McKusick, V. (1994). "Online Mendelian Inheritance in Man," Johns Hopkins Univ. Press, Baltimore.
18. Miller, S. A., Dykes, D. D., and Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
19. Padma, T., Ayyagari, R., Murty, J. S., Basti, S., Fletcher, T., Rao, G. N., Kaiser-Kupfer, M., and Hejtmancik, J. F. (1995). Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am. J. Hum. Genet. 57: 840-845.
20. Reese, P., Truck-Muller, C., and Maumenee, I. (1987). Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)]. Arch. Opthalmol. 105: 1382-1384.
21. Renwick, J., and Lawler, S. (1963). Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann. Hum. Genet. 27: 67-84.
22. Richards, J., Maumenee, I., Rowe, S., and Lovrien, E. (1984). Congenital cataract possibly linked to haptoglobin. Cytogenet. Cell Genet. 37: 570.
23. Rodriguez, I. R., Gonzales, P., Zigler, J. S., and Borras, T. (1992). A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene. Biochim. Biophys. Acta 1180: 44-52.
24. Schaffer, A. A., Gupta, S. K., Shriram, K., and Cottingham, R. W., Jr. (1994). Avoiding recomputation in linkage analysis. Hum. Hered. 44: 225-237.
25. Walsh, P. S., Metzger, D. A., and Higuchi, R. (1991). Chelex-100 as a medium for extraction of DNA for PCR-based typing from forensic material. BioTechniques 10: 506-513.