Recombination within and between the human insulin and beta-globin gene loci.

We detected a large number of polymorphic insulin restriction fragments in black Americans. These different size fragments were probably generated by unequal recombination on both sides of the human insulin gene. Population genetic analysis indicates that recombination occurred 33 times more frequently than expected to generate this large number of polymorphic fragments. Specific properties of the unique repeated 14- to 16-base-pair sequences 5' to the insulin gene suggest that this sequence would promote increased unequal recombination. Additional pedigree analysis showed that the recombination rate between the structural insulin and beta-globin gene loci was 14% with strong evidence for linkage. Since both insulin and beta-globin have been mapped to the short arm of human chromosome 11, this study establishes that the genetic map distance between these genes is 14.2 centimorgans.

[1]  W. Fitch,et al.  Evolutionary selection for perfect hairpin structures in viral DNAs , 1982, Nature.

[2]  A. Ullrich,et al.  Variation in the sequence and modification state of the human insulin gene flanking regions. , 1982, Nucleic acids research.

[3]  W. Rutter,et al.  The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences , 1982, Nature.

[4]  J. Smyth,et al.  Progress in Clinical and Biological Research , 1979 .

[5]  M. Skolnick,et al.  Report of the committee on human gene mapping by recombinant DNA techniques. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. , 1982, Cytogenetics and cell genetics.

[6]  R. Spritz.  Duplication/deletion polymorphism 5′- to the human β globin gene , 1981 .

[7]  A. Wilson,et al.  The untranslated regions of β-globin mRNA evolve at a functional rate in higher primates , 1981, Cell.

[8]  W. Rutter,et al.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene. , 1981, Proceedings of the National Academy of Sciences of the United States of America.

[9]  G. Saunders,et al.  Localization of the human insulin gene to the distal end of the short arm of chromosome 11. , 1981, Proceedings of the National Academy of Sciences of the United States of America.

[10]  M. Goossens,et al.  DNA analysis in the diagnosis of hemoglobin disorders. , 1981, Methods in enzymology.

[11]  M. Nei,et al.  DNA polymorphism detectable by restriction endonucleases. , 1981, Genetics.

[12]  Y. Kan,et al.  Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. , 1980, The Journal of clinical investigation.

[13]  R. White,et al.  A highly polymorphic locus in human DNA. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[14]  Y. Kan,et al.  Evolution of the hemoglobin S and C genes in world populations. , 1980, Science.

[15]  H. Potter,et al.  DNA synaptase: an enzyme that fuses DNA molecules at a region of homology. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[16]  Howard M. Goodman,et al.  Sequence of the human insulin gene , 1980, Nature.

[17]  G. Stamatoyannopoulos,et al.  Triplicated alpha-globin loci in humans. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[18]  T. Maniatis,et al.  The molecular genetics of human hemoglobins. , 1980, Annual review of genetics.

[19]  G. Bernardi,et al.  The mitochondrial genome of wild-type yeast cells. VIII. The spontaneous cytoplasmic "petite" mutation. , 1979, Journal of molecular biology.

[20]  Y W Kan,et al.  Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[21]  D. Housman,et al.  Precise localization of human beta-globin gene complex on chromosome 11. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[22]  G. Weinstock,et al.  Initiation of general recombination catalyzed in vitro by the recA protein of Escherichia coli. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[23]  D. Kurnit.  EVOLUTION OF SICKLE VARIANT GENE , 1979, The Lancet.

[24]  J. Craighead.  Current views on the etiology of insulin-dependent diabetes mellitus. , 1978, The New England journal of medicine.

[25]  J. Miller,et al.  Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli. , 1978, Journal of molecular biology.

[26]  Y. Kan,et al.  Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. , 1978, Proceedings of the National Academy of Sciences of the United States of America.

[27]  U. Francke,et al.  Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. , 1978, Pediatrics.

[28]  N. Morton.  Analysis of crossingover in man. , 1978, Cytogenetics and cell genetics.

[29]  P Berg,et al.  Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. , 1977, Journal of molecular biology.

[30]  T. Yamazaki.  The effects of overdominance of linkage in a multilocus system. , 1977, Genetics.

[31]  N E Morton,et al.  A mapping function for man. , 1977, Human heredity.

[32]  M. Hultén.  Chiasma distribution at diakinesis in the normal human male. , 2009, Hereditas.

[33]  J. Ott.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. , 1974, American journal of human genetics.

[34]  L. Weitkamp.  Proceedings: Population differences in meiotic recombination frequency between loci on chromosome 1. , 1974, Cytogenetics and Cell Genetics.

[35]  T. Huisman,et al.  Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family. , 1973, American journal of human genetics.

[36]  B H Mayall,et al.  DNA Content and DNA-Based Centromeric Index of the 24 Human Chromosomes , 1973, Science.

[37]  W. Ewens.  The sampling theory of selectively neutral alleles. , 1972, Theoretical population biology.

[38]  J. Crow,et al.  THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION. , 1964, Genetics.

[39]  C. Baglioni.  The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. , 1962, Proceedings of the National Academy of Sciences of the United States of America.

[40]  J. Hamerton,et al.  The Chromosomes of Man , 1956, Nature.

[41]  N. Morton.  Sequential tests for the detection of linkage. , 1955, American journal of human genetics.

[42]  K. Mather.  Crossing over and Heterochromatin in the X Chromosome of Drosophila Melanogaster. , 1939, Genetics.

[43]  C. Bridges,et al.  The Multiple Stock "Xple" and Its Use. , 1926, Genetics.