Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies

Investigative Ophthalmology and Visual Science

Volumn 39, Issue 5, 1998, Pages 828-830

  Azuma, Noriyuki ^a   Yamada, Masao ^b  

^a NATIONAL CHILDREN S HOSPITAL   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ANTERIOR EYE CHAMBER DISEASE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CORNEA DISEASE; CORNEA OPACITY; ECTROPION; EYE DEVELOPMENT; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANTERIOR EYE SEGMENT; CHILD; DNA; DNA-BINDING PROTEINS; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; OPEN READING FRAMES; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS;

EID: 0031969487     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutation in the human PAX6 gene. Nat Genet. 1992;1:232-238.
2. Hanson IM, Seawright A, Hardman K, et al. PAX6 mutations in aniridia. Hum Mol Genet. 1993;2:915-920.
3. Martha A, Ferrell RE, Mintz-Hittner H, Jyons LA, Saunders GF. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet. 1994;54:801-811.
4. Hanson I, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet. 1994;6:168-173.
5. Myrzayans F, Pearce WG, MacDonald IM, Walter MA. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet. 1995;57:539-548.
6. Azuma N, Nishina S, Okuyama T, Yanagisawa H, Yamada M. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet. 1996; 13:141-142.
7. Glaser T, Jepeal L, Edwards JG, et al. Pax6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet. 1994;7:463-471.
8. Tang HK, Chao L, Saunders GF. Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet. 1997;6: 381-386.
9. Yanagisawa H, Fujii K, Nagafuchi S, et al. A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum Mol Genet. 1996;5:373-379.
10. Epstein JA. Glaser T, Cai J, et al. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev. 1994;8:2022-2034.
11. Yamaguch Y, Sawada J, Yamada M, Handa H, Azuma N. Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain. Genes Cells. 1997;2: 255-261.
12. Mermod N, O'Neill EA, Kelly TJ, Tijan R. The proline-rich transcriptional activator of CNF/NF-1 is distinct from the replication and DNA binding domain. Cell. 1989;58:741-753.
13. Tanaka M, Herr W. Differential transcriptional activation by Oct-1 and Oct-2: interdependent activation domains induce Oct-2 phosphorylation. Cell. 1990;60:375-386.