ArticleThe Journal of clinical investigation1993
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
Article in The Journal of clinical investigation, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.Cellular & molecular biology letters · 2024Review
- Evaluation in Monogenic Diabetes of the Impact ofHuman mutation · 2023Article
- Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.Diabetologia · 2008Article
- Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.Diabetologia · 2004Article
- Intrinsic differences between authentic and cryptic 5' splice sites.Nucleic acids research · 2003Article
- Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.The Journal of clinical investigation · 1996Article
- Assessment of insulin sensitivity in glucokinase-deficient subjects.Diabetologia · 1996Article
- Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.American journal of human genetics · 1995Article
- The genetics of non-insulin-dependent diabetes mellitus: tools and aims.Diabetologia · 1994Review
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10 authors.
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Abstract
Missense and nonsense mutations in the glucokinase gene have recently been shown to result in maturity-onset diabetes of the young (MODY), a subtype of non-insulin-dependent diabetes mellitus with early age of onset. Glucokinase catalyzes the formation of glucose-6-phosphate and is involved in the regulation of insulin secretion and integration of hepatic intermediary metabolism. Nucleotide sequence analysis of exon 4 and its flanking intronic regions of the glucokinase gene, in four hyperglycemic individuals of a MODY family, revealed a deletion of 15 base pairs, which removed the t of the gt in the donor splice site of intron 4, and the following 14 base pairs. This deletion resulted in two aberrant transcripts, which were analyzed by reverse transcription of RNA from lymphoblastoid cells obtained from a diabetic patient. In one of the abnormal transcripts, exon 5 is missing, while in the other, the activation of a cryptic splice site leads to the removal of the last eight codons of exon 4. This intronic deletion in a donor splice site seems to cause a more severe form of glucose intolerance, compared with point mutations described in glucokinase. This might be due to a more pronounced effect on insulin secretion.
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