Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

American Journal of Human Genetics

Volumn 93, Issue 6, 2013, Pages 1126-1134

  Bhatia, Shipra ^a   Bengani, Hemant ^a   Fish, Margaret ^b   Brown, Alison ^a   Divizia, Maria Teresa ^c   De Marco, Riccardo ^c   Damante, Guiseppe ^d   Grainger, Robert ^b   Van Heyningen, Veronica ^a   Kleinjan, Dirk A ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF VIRGINIA   (United States)

^c G GASLINI INSTITUTE   (Italy)

^d SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ARTICLE; AUTOREGULATION; BINDING SITE; CODING; ENHANCER REGION; FEEDBACK SYSTEM; GENE ACTIVITY; GENE DISRUPTION; GENE EXPRESSION; GENE LOCUS; GENETIC DISORDER; HUMAN; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL;

ANIMALS; ANIRIDIA; BASE SEQUENCE; ENHANCER ELEMENTS, GENETIC; EYE; EYE PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE ORDER; HOMEODOMAIN PROTEINS; HOMEOSTASIS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE ALIGNMENT; ZEBRAFISH;

EID: 84890314164     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.028     Document Type: Article

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