A new locus for autosomal dominant cataract on choromosome 12q13

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 9, 2000, Pages 2665-2670

  Bateman, J B ^a   Johannes, M ^a   Flodman, P ^a   Geyer, D D ^a   Clancy, K P ^a   Heinzmann, C ^a   Kojis, T ^a   Berry, R ^a   Sparkes, R S ^a   Spence, M A ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CATARACT; CHROMOSOME 12Q; CLINICAL ARTICLE; GENE; GENE MAPPING; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SLIT LAMP;

CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CRYSTALLINS; FEMALE; HUMANS; LENS, CRYSTALLINE; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 0033856255     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (81)

1. The eradication of rubella
2. Genetic counseling in sporadic cases of congenital cataracts
3. A family with eight generations of hereditary cataract
4. Autosomal dominant congenital cataract: Morphology and genetic mapping
5. A peculiar form of hereditary cataract
6. Autosomal dominant congenital cataract: Interocular phenotypic variability
7. Autosomal dominant 'zonular pulverulent' cataract linked to human chromosome 13
8. Spear cataract
9. Gene localization of aculeiform cataract, on chromosome 2q33-35
10. The genetics of cataract: Our vision becomes clearer
11. Cataract mutations and lens development
12. Genetic linkage analysis of autosomal dominant congenital cataracts
13. Molecular Cloning: A Laboratory Manual
14. Congenital cataract possibly linked to haptoglobin
15. Marner's cataract (CAM) assigned to chromosome 16: Linkage to haptoglobin
16. Probable linkage between a congenital cataract and the Duffy blood group locus
17. A pseudo-exon in the functional human αA-crystallin gene
18. Confirmation of assignment of the human α1-crystallin gene (CRYA1) to human chromosome 21 with regional localization to q22.3
19. Human alpha-B-crystallin gene and preferential promoter function in lens
20. Assignment of the αB-crystallin gene to human chromosome 11
21. Cloning and characterization of a cow beta crystallin cDNA
22. Assignment of a human β-crystallin gene to 17cen-q23
23. Regional mapping panel for human chromosome 17: Application to neuro-fibromatosis type 1
24. Nucleotide sequence for the DNA of the bovine βB2 crystallin and assignment of the orthologous human locus to chromosome 22
25. Characterization of the human β-crystallin gene HuβA3/A1 reveals ancestral relationships among the βγ-crystallin superfamily
26. Direct assignment of the human βB2 and βB3 crystallin genes to 22q11.2-q12: Markers for neurofibromatosis 2
27. Complete nucleotide sequence of a cDNA derived from calf lens γ-crystallin mRNA: Presence of Alu I-like DNA sequences
28. Localization of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-q35
29. Organization of the human zeta-crystallin/quinone reductase gene (CRYZ)
30. Assignment of the ζ-crystallin gene (CRYZ) to human chromosome 1p21-p31 and identification of restriction fragment length polymorphisms
31. A progressive early onset cataract gene maps to human chromosome 17q24
32. The Marshfield Institute for Molecular Genetics
33. A computer program for linkage analysis of general human pedigrees
34. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human β-crystallin gene CRYBB2
35. Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2
36. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q
37. Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to1q21.1
38. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
39. Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract
40. The γ-crystallins and human cataracts: A puzzle made clearer
41. Autosomal dominant zonular cataract with sutural opacities: Result of a splice site mutation
42. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the βA3/A1-crystallin gene
43. Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12
44. Connexin46 mutations in autosomal dominant congenital cataract
45. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD- crystallin gene
46. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
47. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
48. Bilateral cataract and high serum ferritin: A new dominant genetic disorder?
49. Molecular basis for recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-suhunit gene
50. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
51. A posterior polar cataract maps to chromosome 1p
52. The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases
53. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene
54. Molecular cloning of a diacylglycerol kinase isozyme predominantly expressed in human retina with a truncated and inactive enzyme expression in most other human cells
55. Assignment of the human diacylglycerol kinase gene (DAGK) to 12q13.3 using fluorescence in situ hybridization analysis
56. The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloning
57. Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens
58. In situ hybridisation localises the gene for the major intrinsic protein of the eye lens fibre cell membranes to human chromosome 12qI4
59. Lens membranes, II: Isolation and characterization of the main intrinsic polypeptide (MIP) of bovine lens fiber membranes
60. Preparation, characterization, and localization of antisera against bovine MP26, an integral protein from lens fiber plasma membrane
61. Expression of the gene for main intrinsic polypeptide (MIP): Separate spatial distributions of MIP and β-crystallin gene transcripts in rat lens development
62. NCAM in the differentiation of embryonic lens tissue
63. Isolation and characterization of the 5'-flanking sequence of the human ocular lens MIP gene
64. Overlapping Sp1 and AP2 binding sites in a promoter element of the lens-specific MIP gene
65. The transcription factor Sp3 interacts with promoter elements of the lens specific MIP gene
66. Major intrinsic polypeptide (MIP26K) from lens membrane: Reconstitution into vesicles and inhibition of channel forming activity by peptide antiserum
67. Lens cell-to-cell channel protein, I: Self-assembly into liposomes and permeability regulation by calmodulin
68. Properties of channels reconstituted from the major intrinsic protein of lens fiber membrane
69. The role of MIP in lens fiber cell membrane transport
70. Water channel properties of major intrinsic protein of lens
71. Ion, water and neutral solute transport in Xenopus oocytes expressing frog lens MIP
72. Deletion mutation in an eye lens β-crystallin
73. A frameshift mutation in the γE-crystallin gene of the Elo mouse
74. A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene
75. Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse
76. Mutations in the founder of the MIP gene family underlie cataract development in the mouse
77. Exon 2 deletion in the transcript encoding the lens major intrinsic protein (MIP) results in a mouse genetic cataract