A novel PAX6 gene mutation in an Indian aniridia patient

Molecular Vision

Volumn 9, Issue , 2003, Pages 205-209

  Neethirajan, Guruswamy ^a   Hanson, Isabel M ^b   Krishnadas, Subbiah Ramasamy ^c   Vijayalashmi, Perumalsamy ^c   Anupkumar, Kesavan ^d   Sundaresan, Periasamy ^a  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c ARAVIND EYE HOSPITAL   (India)

^d MADURAI KAMARAJ UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN; TRANSCRIPTION FACTOR;

ANIRIDIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; EXON; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HETERODUPLEX ANALYSIS; HUMAN; INDIA; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; ADOLESCENT; AMINO ACID SEQUENCE; CATARACT; ETHNOLOGY; GENETICS; GLAUCOMA; MALE; MOLECULAR GENETICS; MUTATION; NYSTAGMUS;

ADOLESCENT; AMINO ACID SEQUENCE; ANIRIDIA; CATARACT; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GLAUCOMA; HETERODUPLEX ANALYSIS; HOMEODOMAIN PROTEINS; HUMANS; INDIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NYSTAGMUS, PATHOLOGIC; PAIRED BOX TRANSCRIPTION FACTORS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, PROTEIN; TRANSCRIPTION FACTORS;

EID: 0037733996     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol 1984; 28:621-42.
2. Crolla JA, van Heyningen V. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet 2002; 71:1138-49.
3. Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, van Heyningen V, Hastie ND, Meijers-Heijboer H, Drechsler M, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991; 67:1059-74.
4. Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992; 1:328-32.
5. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992; 2:232-9.
6. van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet 2002; 11:1161-7.
7. Chi N, Epstein JA. Getting your Pax straight: Pax proteins in development and disease. Trends Genet 2002; 18:41-7.
8. Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RL. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev 1994; 8:2022-34.
9. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 1999; 65:656-63.
10. Singh S, Mishra R, Arango NA, Deng JM, Behringer RR, Saunders GF. Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. Proc Natl Acad Sci U S A 2002; 99:6812-5.
11. Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. PAX6 mutations in aniridia. Hum Mol Genet 1993; 2:915-20.
12. Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat 1998; 11:93-108.
13. Brown A, McKie M, van Heyningen V, Prosser J. The Human PAX6 Mutation Database. Nucleic Acids Res 1998; 26:259-64.
14. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994; 7:463-71.
15. Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 1999; 8:165-72.
16. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215.
17. Ravnik-Glavac M, Glavac D, Dean M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Genet 1994; 3:801-7.
18. Axton RA, Hanson IM, Love J, Seawright A, Prosser J, van Heyningen V. Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. Mol Cell Probes 1997; 11:287-92.
19. Gupta SK, De Becker I, Tremblay F, Guernsey DL, Neumann PE. Genotype/phenotype correlations in aniridia. Am J Ophthalmol 1998; 126:203-10.
20. Vincent MC, Pujo AL, Olivier D, Calvas P. Screening for PAX6 mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet 2002; 11:163-9.
21. Culbertson MR. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999; 15:74-80.
22. Tang HK, Chao LY, Saunders GF. Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet 1997; 6:381-6.