Mutation analysis of PAX6 gene in a large Chinese family with aniridia

Chinese Medical Journal

Volumn 118, Issue 4, 2005, Pages 302-306

  Song, Shu Juan ^a   Liu, Ying Zhi ^b   Cong, Ri Chang ^b   Jin, Ying ^a   Hou, Zhi Qiang ^a   Ma, Zhi Zhong ^a   Ren, Guo Cheng ^b   Li, Ling Song ^a  

^a PEKING UNIVERSITY   (China)

^b Chaoyang Central Hospital   (China)

Author keywords

Aniridia; Mutation analysis; PAX6 gene

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR PAX6;

ALLELE; ANIRIDIA; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ANIRIDIA; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REPRESSOR PROTEINS;

EID: 14644421608     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991;67: 1059-1074.
2. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232-239.
3. Engelkamp D, Rashbass P, Seawright A, et al. Role of Pax6 in development of the cerebellar system. Development 1999;126:3585-3596.
4. Gehring WJ. The master control gene for morphogenesis and evolution of the eye. Genes Cells 1996;1: 11-15.
5. Mishra R, Gorlov IP, Chao LY, et al. PAX6, paired domain influences sequence recognition by the homeodomain. J Biol Chem 2002;20:49488-49494.
6. Kleinjan DA, Seawright A, Schedl A, et al. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum Mol Genet 2001; 10:2049-2059.
7. Grzeskowiak R, Amin J, Oetjen E, et al. Insulin responsiveness of the glucagon gene conferred by interactions between proximal promoter and more distal enhancer-like elements involving the paired-domain transcription factor PAX6. J Biol Chem 2000; 275: 30037-30045.
8. Human Genetics Unit PAX6 Mutation Database. ( Accessed October 20, 2004 at http://www.hgumrc.ac.uk/softdata/PAX6/)
9. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-811.
10. Love J, Axton R, Churchill A, et al. A new set of primers for mutation analysis of the human PAX6 gene. Hum Mutat 1998;12:128-134.
11. Axton R, Hanson I, Danes S, et al. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases, J Med Genet 1997;34:279-286.
12. Zumkeller W, Orth U and Gal A. Three novel PAX6 mutations in patients with aniridia. J Clin Pathol 2003; 56:180-183.
13. Azuma N, Yamaguchi Y, Handa H, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 2003;72: 1565-1570.
14. Hanson IM, 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.
15. Mirzayans F, Pearce WG, MacDonald IM, et al. Mutation of the PAX6 gene in patients with autosomal dom-inant keratitis. Am J Hum Genet 1995; 57: 539-548.
16. Azuma N, Nishina S, Yanagisawa H, et al. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 1996;13:141-142.
17. Azuma N, Yamada M. Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies. Invest Ophthalmol Vis Sci 1998; 39: 828-830.
18. Fisher E, Scambler P. Human haploinsufficiency-one for sorrow, two for joy. Nat Genet 1994;7:5-7.
19. Martha A, Ferrell RE, Mintz-Hittner H, et al. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet 1994;54: 801-811.
20. Azuma N, Hotta Y, Tanaka H, et al. Missense mutations in the PAX6 gene in aniridia. Invest Ophthalmol Vis Sci 1998; 39:2524-2528.
21. Tang HK, Chao L, Saunders GF. Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet 1997;6:381-386.
22. Yamaguchi Y, Sawada J, Yamada M, et al. Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired do-main. Genes Cells 1997;2:255-261.