Literature DB >> 6248962

Genetic variation in the human insulin gene.

A Ullrich, T J Dull, A Gray, J Brosius, I Sures.   

Abstract

Four recombinant lambda phages containing nucleotide sequences complementary to a cloned human preproinsulin DNA probe have been isolated from human DNA. Restriction analyses in conjunction with Southern hybridizations reveal two types of gene sequences. One isolate of each type was subjected to complete nucleotide sequence determination. The sequences contain the entire preproinsulin messenger RNA region, two intervening sequence. 260 nucleotides upstream from the messenger RNA capping site, and 35 nucleotides beyond the polyadenylate attachment site. Our results strongly suggest that these two gene types are allelic variants of a single insulin gene.

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Year:  1980        PMID： 6248962     DOI： 10.1126/science.6248962

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  42 in total

1.  Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation.

Authors:  C A Mein; B J Barratt; M G Dunn; T Siegmund; A N Smith; L Esposito; S Nutland; H E Stevens; A J Wilson; M S Phillips; N Jarvis; S Law; M de Arruda; J A Todd
Journal:  Genome Res       Date:  2000-03       Impact factor: 9.043

2.  In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk. DiMe (Childhood Diabetes in Finland) Study Group.

Authors:  K A Metcalfe; G A Hitman; M J Fennessy; M I McCarthy; J Tuomilehto; E Tuomilehto-Wolf
Journal:  Diabetologia       Date:  1995-10       Impact factor: 10.122

Review 3.  Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants.

Authors:  Michael Gundry; Jan Vijg
Journal:  Mutat Res       Date:  2011-10-12       Impact factor: 2.433

4.  Construction of a map of the short arm of human chromosome 6.

Authors:  R Leach; R DeMars; S Hasstedt; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

5.  RNA-mediated gene duplication: the rat preproinsulin I gene is a functional retroposon.

Authors:  M B Soares; E Schon; A Henderson; S K Karathanasis; R Cate; S Zeitlin; J Chirgwin; A Efstratiadis
Journal:  Mol Cell Biol       Date:  1985-08       Impact factor: 4.272

6.  Nucleic acid composition, codon usage, and the rate of synonymous substitution in protein-coding genes.

Authors:  A Ticher; D Graur
Journal:  J Mol Evol       Date:  1989-04       Impact factor: 2.395

7.  Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.

Authors:  Y Shibasaki; T Kawakami; Y Kanazawa; Y Akanuma; F Takaku
Journal:  J Clin Invest       Date:  1985-07       Impact factor: 14.808

8.  Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

Authors:  R A Spritz; D Mager; R M Pauli; R Laxova
Journal:  Am J Hum Genet       Date:  1986-08       Impact factor: 11.025

9.  Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

Authors:  F Baas; H Bikker; G J van Ommen; J J de Vijlder
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.

Authors:  S J Chan; S Seino; P A Gruppuso; R Schwartz; D F Steiner
Journal:  Proc Natl Acad Sci U S A       Date:  1987-04       Impact factor: 11.205
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