3' deletions cause aniridia by preventing PAX6 gene expression.

Lauderdale JD; Wilensky JS; Oliver ERWalton DSGlaser T

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3' deletions cause aniridia by preventing PAX6 gene expression.

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Aniridia is a panocular human eye malformation caused by heterozygous null mutations within PAX6, a paired-box transcription factor, or cytogenetic deletions of chromosome 11p13 that encompass PAX6. Chromosomal rearrangements also have been described that disrupt 11p13 but spare the PAX6 transcription unit in two families with aniridia. These presumably cause a loss of gene expression, by removing positive cis regulatory elements or juxtaposing negative DNA sequences. We report two submicroscopic de novo deletions of 11p13 that cause aniridia but are located >11 kb from the 3' end of PAX6. The clinical manifestations are indistinguishable from cases with chain-terminating mutations in the coding region. Using human x mouse retinoblastoma somatic cell hybrids, we show that PAX6 is transcribed only from the normal allele but not from the deleted chromosome 11 homolog. Our findings suggest that remote 3' regulatory elements are required for initiation of PAX6 expression.

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《Proceedings of the National Academy of Sciences of the United States of America》 |2000年第25期|13755-13759|共5页
作者
Lauderdale JD; Wilensky JS; Oliver ERWalton DSGlaser T;
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作者单位

Departments of Internal Medicine and Human Genetics, University of Michigan, 4510 MSRB I, Box 0650, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0650, USA.;

reussEngineering.com;

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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种英语
中图分类自然科学总论;
关键词
Aniridia; Chromosome Deletion; Gene Expression Regulation; Homeodomain Proteins; 无虹膜; 染色体缺失; 基因表达调控; 同源域蛋白质类;

3' deletions cause aniridia by preventing PAX6 gene expression.

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