NDLI: Molecular basis of human growth hormone gene deletions.

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Molecular basis of human growth hormone gene deletions.

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Molecular basis of human growth hormone gene deletions.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Phillips, J. A. Seeburg, P. H. Vnencak-jones, C. L. Chen, E. Y.
Description	Author Affiliation: Vnencak-Jones CL ( Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232.);
Abstract	Crossover sites resulting from unequal recombination within the human growth hormone (GH) gene cluster that cause GH1 gene deletions and isolated GH deficiency type 1A were localized in nine patients. In eight unrelated subjects homozygous for 6.7-kilobase (kb) deletions, the breakpoints are within two blocks of highly homologous DNA sequences that lie 5' and 3' to the GH1 gene. In seven of these eight cases, the breakpoints map within a 1250-base-pair (bp) region composed of 300-bp Alu sequences of 86% homology and flanking non-Alu sequences that are 600 and 300 bp in length and are of 96% and 88% homology, respectively. In the eighth patient, the breakpoints are 5' to these Alu repeats and are most likely within a 700-bp region of 96% homologous DNA sequences. In the ninth patient homozygous for a 7.6-kb deletion, the breakpoints are contained within a 29-bp perfect repeat lying 5' to GH1 and the human chorionic somatomammotropin pseudogene (CSHP1). Together, these results indicate that the presence of highly homologous DNA sequences flanking GH1 predispose to recurrent unequal recombinational events presumably through chromosomal misalignment.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	15
Volume Number	85
Language	English
Publisher	National Academy of Sciences
Publisher Date	1988-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Chromosome Deletion Deoxyribonucleases, Type II Site-Specific Growth Disorders Genetics Growth Hormone DNA DNA Restriction Enzymes Genes Deficiency Nucleic Acid Hybridization Repetitive Sequences, Nucleic Acid Sequence Homology, Nucleic Acid Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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