Molecular basis of human growth hormone gene deletions

Journal Article · Mon Aug 01 04:00:00 EDT 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.85.15.5615· OSTI ID:5404636

Vnencak-Jones, C L; Phillips, III, J A; Chen, E Y; Seeburg, P H ^[1]

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1. Vanderbilt Univ. School of Medicine, Nashville, TN (USA)

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{prime} and 3{prime} to the GH1 gene. In seven of these eight cases, the breakpoints map within a 1,250-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{prime} 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 with a 29-bp perfect repeat lying 5{prime} 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.

• OSTI ID: 5404636
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 85:15; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AUTORADIOGRAPHY
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHROMOSOMAL ABERRATIONS
DAYS LIVING RADIOISOTOPES
DNA
DNA SEQUENCING
ELECTROPHORESIS
EVEN-ODD NUCLEI
GENE MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
HORMONES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MAPPING
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PATIENTS
PEPTIDE HORMONES
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PITUITARY HORMONES
RADIOISOTOPES
STH
STRUCTURAL CHEMICAL ANALYSIS
SULFUR 35
SULFUR ISOTOPES