Genetic Variation in the Human Insulin Gene
SciencePublished 1 August 1980
Axel Ullrich, Thomas J. Dull, Alane Gray, Jürgen Brosius, I Sures
Citations142
SJR quartileQ1
SJR score10.42
SNIP6.62
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
Four recombinant lambda phages containing nucleotide sequences complementary to a cloned human preproinsulin DNA probe have been isolated from human DNA and restriction analyses suggest that these two gene types are allelic variants of a single insulin gene.
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.
Keywords
Agricultural and Biological SciencesBiochemistry, Genetics and Molecular Biology
Journal of Molecular BiologyDetection of specific sequences among DNA fragments separated by gel electrophoresis
32,820 Citations1975E.M. Southern
This paper describes a method of transferring fragments of DNA from agarose gels to cellulose nitrate filters that can be hybridized to radioactive RNA and hybrids detected by radioautography or fluorography.
Proceedings of the National Academy of SciencesA new method for sequencing DNA.
7,969 Citations1977Allan M. Maxam, Wendy V. Gilbert
Reactions that cleave DNA preferentially at guanines, at adenines,At cytosines and thymines equally, and at cytosine alone are described.
CellThe isolation of structural genes from libraries of eucaryotic DNA
1,856 Citations1978Tom Maniatis, Ross C. Hardison +6 more
A procedure for eucaryotic structural gene isolation which involves the construction and screening of cloned libraries of genomic DNA is presented and Restriction mapping and hybridization studies reveal the presence of closely linked beta-globin genes.
NatureAre snRNPs involved in splicing?
1,216 Citations1980Michael R. Lerner, John A. Boyle +3 more
Several lines of evidence are presented that suggest a direct involvement of snRNPs in the splicing of hnRNA molecules, including the observation that the nucleotide sequence at the 5′ end of U1 RNA exhibits extensive complementarity to those across splice junctions in hn RNA molecules.
Journal of Molecular BiologyChanges in size and secondary structure of the ribosomal transcription unit during vertebrate evolution
1,196 Citations1975Ueli Schibler, Toni Wyler +1 more
Analysis of the double-stranded, S 1 -resistant fragments indicates that there is a direct relationship between the hairpin loops seen in the electron microscope and secondary structure in aqueous solution.
CellThe isolation and characterization of linked δ- and β-globin genes from a cloned library of human DNA
1,052 Citations1978Richard M. Lawn, Edward F. Fritsch +3 more
The two independently isolated β-globin clones differ from each other by the presence of a Pst I restriction enzyme cleavage site within the large intervening sequence of the δ- globin gene of one of the clones, which suggests that the human DNA carried in the two clones was derived from two homologous chromosomes which were heterozygous for the PstI restriction enzyme recognition sequence.
CellThe structure and evolution of the two nonallelic rat preproinsulin genes
498 Citations1979Peter T. Lomedico, Nadia Rosenthal +4 more
Calculations based on the divergence of the two preproinsulin nucleotide and amino acid sequences indicate that these genes are the products of a recent duplication.
CellDNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of man
463 Citations1979Alec J. Jeffreys
Three types of variant restriction enzyme patterns of globin DNA fragments were detected in otherwise normal individuals and can be used to derive an approximate estimate of the total number of different DNA sequence variants in man.
NatureE. coli recA protein-directed cleavage of phage λ repressor requires polynucleotide
349 Citations1980Nancy L. Craig, Jeffrey W. Roberts
It is suggested that a stoichiometric complex of recA protein and DNA is active both to destroy repressors by proteolytic cleavage and to initiate pairing of this DNA to its homologous sequence in a DNA duplex ('strand invasion').
CellThe evolution and sequence comparison of two recently diverged mouse chromosomal β-globin genes
335 Citations1979David A. Konkel, Jacob V. Maizel +1 more
It is found that evolution has preserved these two genes in two short segments of DNA which include their immediately adjacent flanking regions, and provides considerable insight into the mechanisms by which less constrained nucleotide sequences diverge rapidly.
CellCloning and complete nucleotide sequence of mouse immunoglobulin γ1 chain gene
228 Citations1979Tasuku Honjo, Masanori Obata +5 more
The results suggest that the intervening sequence was introduced into theheavy chain gene before divergence of the heavy chain classes, and support the hypothesis that the splicing mechanism has facilitated the evolution of eucaryotic genes by linking duplicated domains or prototype peptides not directly adjacent to one another.
CellThe structure and transcription of four linked rabbit β-like globin genes
172 Citations1979Ross C. Hardison, Eugene T. Butler +4 more
Determination of the nucleotide sequence of gene beta 1 confirms that this gene corresponds to the second type of two common co-dominant alleles encoding the adult beta-globin chain, and partial DNA sequence analysis indicates that the large intron in beta 4 is located between codons for amino acids lysine and leucine in an analogous position to that of the largeintron in Beta 1.
CellThe dna sequence of bombyx mori fibroin gene including the 5′ flanking, mRNA coding, entire intervening and fibroin protein coding regions
168 Citations1979Yoshihide Tsujimoto, Yoshiaki Suzuki
Comparison of the nucleotide sequence of the genomic gene and cDNA containing the sequence complementary to fibroin mRNA has confirmed the existence of an intervening sequence 970 bases long, and pinpointed the 5′ coding-intervening junction at +64−66 and the 3′ intervening-coding junction at -1034−1036.
NatureComparison of cloned rabbit and mouse β-globin genes showing strong evolutionary divergence of two homologous pairs of introns
158 Citations1978Johan Berg, Albert van Ooyen +5 more
Cloned β-globin genes of both mouse and rabbit each contain a large and a small intervening sequence (intron) of about equal length at precisely the same positions relative to the coding sequence.
NatureNucleotide sequence of a cDNA clone encoding human preproinsulin
141 Citations1979Graeme I. Bell, William F. Swain +4 more
The cloning of a cDNA prepared from human insulin mRNA and an analysis of the nucleotide sequence of the cloned molecule including the region coding for the prepeptide and portions of the 5′- and the 3′-untranslated regions of the molecule are reported.
CellThe ovalbumin gene: Alleles created by mutations in the intervening sequences of the natural gene
90 Citations1979Eugene C. Lal, Savio L.C. Woo +2 more
Analysis of individual chicken DNA cleaved by restriction endonuclease Hae III has revealed that there may be a series of mutational variations within the ovalbumin gene, and two HaeIII cleavage sites that do not occur in all of the chickens are identified, thus giving rise to several additional allelic variations of the oval bumin gene.
ScienceNucleotide Sequence of Human Preproinsulin Complementary DNA
61 Citations1980I Sures, David V. Goeddel +2 more
Recombinant bacterial plasmids that contain DNA complementary to human preproinsulin messenger RNA have been constructed, and the amino acid sequence of human proinsulin signal peptide is predicted to be the same as previously determined.