Linked Life Data

12000366

Source:http://linkedlifedata.com/resource/pubmed/id/12000366

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-5-9
pubmed:abstractText
A heterozygous base change was identified in exon 3 of the growth hormone (GH)-1 gene in a Japanese family with autosomal dominant GH deficiency. All of the patients from this family had a heterozygous G to T transversion at the first 5'-site nucleotide of exon 3. Analysis of the GH-1 cDNA, synthesized from lymphoblasts of the patients, revealed an abnormal shorter transcript as well as a normal-sized transcript. Direct sequencing of this abnormal transcript showed that the transcript completely lacked exon 3. In familial isolated GH deficiency (IGHD) type II, several heterozygous mutations have been reported at the donor splice site in intron 3 of the GH-1 gene or inside intron 3, which causes aberrant GH messenger RNA splicing, resulting in the deletion of exon 3. This deletion causes a lack of amino acid residues 32-71 in the mature GH protein. This mutant GH is well-known to exert a dominant negative effect on the secretion of mature normal GH protein. Thus, in the subject family, a heterozygous G-to-T transversion at the first nucleotide of the exon 3 deletes exon 3 in mature GH mRNA and causes GH deficiency. The present authors suggest that the first nucleotide of exon 3 is critical for the splicing of GH-1 mRNA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
222-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.
pubmed:affiliation
Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
pubmed:publicationType
Journal Article, Case Reports