NDLI: Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated 'island' in the Miller-Dieker chromosome region.

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Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated 'island' in the Miller-Dieker chromosome region.

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Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated 'island' in the Miller-Dieker chromosome region.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ledbetter, S. A. Wolff, R. Ledbetter, D. H. Barker, D. F. Robinson, T. J. White, R. Nakamura, Y. Summers, K. M. Wallace, M. R. Vantuinen, P.
Description	Author Affiliation: Ledbetter DH ( Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.);
Abstract	The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13. Twelve anonymous DNA markers were tested against a panel of somatic cell hybrids containing 17p deletions from seven MDS patients. All patients, including three with normal karyotypes, are deleted for a variable set of 5-12 markers. Two highly polymorphic VNTR (variable number of tandem repeats) probes, YNZ22 and YNH37, are codeleted in all patients tested and make molecular diagnosis for this disorder feasible. By pulsed-field gel electrophoresis, YNZ22 and YNH37 were shown to be within 30 kilobases (kb) of each other. Cosmid clones containing both VNTR sequences were identified, and restriction mapping showed them to be less than 15 kb apart. Three overlapping cosmids spanning greater than 100 kb were completely deleted in all patients, providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region, indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. The conserved sequences were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 centimorgans, into the 17p telomere region.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	13
Volume Number	86
Language	English
Publisher	National Academy of Sciences
Publisher Date	1989-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Brain Abnormalities Chromosome Deletion Chromosomes, Human, Pair 17 Genes Biological Evolution Blotting, Southern Chromosome Mapping Methylation Restriction Mapping Syndrome Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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