Biomaterial Database

An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. 2002

I Takahashi, and T Takahashi, and M Komatsu, and T Sato, and G Takada

Department of Pediatrics, Akita University School of Medicine, Akita, Japan.

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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013006	Growth Hormone	A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized.	Growth Hormone, Recombinant,Pituitary Growth Hormone,Recombinant Growth Hormone,Somatotropin,Somatotropin, Recombinant,Growth Hormone, Pituitary,Growth Hormones Pituitary, Recombinant,Pituitary Growth Hormones, Recombinant,Recombinant Growth Hormones,Recombinant Pituitary Growth Hormones,Recombinant Somatotropins,Somatotropins, Recombinant,Growth Hormones, Recombinant,Recombinant Somatotropin
D017398	Alternative Splicing	A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.	RNA Splicing, Alternative,Splicing, Alternative,Alternate Splicing,Nested Transcripts,Alternate Splicings,Alternative RNA Splicing,Alternative RNA Splicings,Alternative Splicings,Nested Transcript,RNA Splicings, Alternative,Splicing, Alternate,Splicing, Alternative RNA,Splicings, Alternate,Splicings, Alternative,Splicings, Alternative RNA,Transcript, Nested,Transcripts, Nested
D017422	Sequence Analysis, DNA	A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.	DNA Sequence Analysis,Sequence Determination, DNA,Analysis, DNA Sequence,DNA Sequence Determination,DNA Sequence Determinations,DNA Sequencing,Determination, DNA Sequence,Determinations, DNA Sequence,Sequence Determinations, DNA,Analyses, DNA Sequence,DNA Sequence Analyses,Sequence Analyses, DNA,Sequencing, DNA
D018389	Codon, Nonsense	An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.	Codon, Termination, Premature,Codon, Unassigned,Mutation, Nonsense,Nonsense Codon,Nonsense Mutation,Premature Stop Codon,Unassigned Codon,Amber Nonsense Codon,Amber Nonsense Mutation,Nonsense Codon, Amber,Ochre Nonsense Codon,Ochre Nonsense Mutation,Opal Nonsense Codon,Opal Nonsense Mutation,Premature Termination Codon,Amber Nonsense Codons,Amber Nonsense Mutations,Codon, Amber Nonsense,Codon, Ochre Nonsense,Codon, Opal Nonsense,Codon, Premature Stop,Codon, Premature Termination,Codons, Amber Nonsense,Codons, Nonsense,Codons, Ochre Nonsense,Codons, Opal Nonsense,Codons, Premature Stop,Codons, Premature Termination,Codons, Unassigned,Mutation, Amber Nonsense,Mutation, Ochre Nonsense,Mutation, Opal Nonsense,Mutations, Amber Nonsense,Mutations, Nonsense,Mutations, Ochre Nonsense,Mutations, Opal Nonsense,Nonsense Codon, Ochre,Nonsense Codon, Opal,Nonsense Codons,Nonsense Codons, Amber,Nonsense Codons, Ochre,Nonsense Codons, Opal,Nonsense Mutation, Amber,Nonsense Mutation, Ochre,Nonsense Mutation, Opal,Nonsense Mutations,Nonsense Mutations, Amber,Nonsense Mutations, Ochre,Nonsense Mutations, Opal,Ochre Nonsense Codons,Ochre Nonsense Mutations,Opal Nonsense Codons,Opal Nonsense Mutations,Premature Stop Codons,Premature Termination Codons,Stop Codon, Premature,Stop Codons, Premature,Termination Codon, Premature,Termination Codons, Premature,Unassigned Codons
D020133	Reverse Transcriptase Polymerase Chain Reaction	A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.	Polymerase Chain Reaction, Reverse Transcriptase,Reverse Transcriptase PCR,PCR, Reverse Transcriptase,Transcriptase PCR, Reverse