Literature DB >> 2239965

Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.

S H Chen1, C R Scott.   

Abstract

Factor IXSeattle 1 is a 10-kb intragenic deletion identified in a family that has hemophilia B. By sequencing across the site of the deletion, we discovered at the deletion junction a 13-bp sequence (5' . . . TAGAA-GTTCACTT . . . 3') that was homologous to two 14-bp sequences 10 kb apart in introns D and F of the normal factor IX gene. The presence of these homologous sequences in two different regions of the normal gene allows us to propose that genetic recombination has occurred between the sequences, resulting in the gene deletion. The precise recombination site was able to be localized to one of 5 bp (5' . . . AGTTC . . . 3') in the middle of the homologous sequences. The exact length of the deletion is 10,000 bp.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2239965      PMCID： PMC1683893     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  9 in total

1.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

2.  An intragenic deletion of the factor IX gene in a family with hemophilia B.

Authors:  S H Chen; S Yoshitake; P F Chance; G L Bray; A R Thompson; C R Scott; K Kurachi
Journal:  J Clin Invest       Date:  1985-12       Impact factor: 14.808

3.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

4.  Gene deletion as the molecular basis for the Kenya-G gamma-HPFH condition.

Authors:  P J Ojwang; T Nakatsuji; M B Gardiner; A L Reese; J G Gilman; T H Huisman
Journal:  Hemoglobin       Date:  1983       Impact factor: 0.849

Review 5.  The molecular genetics of human hemoglobin.

Authors:  F S Collins; S M Weissman
Journal:  Prog Nucleic Acid Res Mol Biol       Date:  1984

6.  Localization of the site of recombination in formation of the Lepore Boston globin gene.

Authors:  M Baird; H Schreiner; C Driscoll; A Bank
Journal:  J Clin Invest       Date:  1981-08       Impact factor: 14.808

7.  Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

Authors:  M A Lehrman; D W Russell; J L Goldstein; M S Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

8.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

9.  Partial deletion by illegitimate recombination of the factor IX gene in a haemophilia B family with two inhibitor patients.

Authors:  P M Green; D R Bentley; R S Mibashan; F Giannelli
Journal:  Mol Biol Med       Date:  1988-04
  9 in total
  7 in total

1.  Unequal homologous recombination of human DNA on a yeast artificial chromosome.

Authors:  C Campbell; I Marondel; K Montgomery; K Krauter; R Kucherlapati
Journal:  Nucleic Acids Res       Date:  1995-09-25       Impact factor: 16.971

2.  A postulated mechanism for deletions with inversions.

Authors:  S S Sommer; R P Ketterling
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

3.  The rates and patterns of deletions in the human factor IX gene.

Authors:  R P Ketterling; E L Vielhaber; T J Lind; E C Thorland; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

4.  High-frequency illegitimate integration of transfected DNA at preintegrated target sites in a mammalian genome.

Authors:  R V Merrihew; K Marburger; S L Pennington; D B Roth; J H Wilson
Journal:  Mol Cell Biol       Date:  1996-01       Impact factor: 4.272

5.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

6.  Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.

Authors:  J Solera; M Magallón; J Martin-Villar; A Coloma
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

7.  Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Authors:  A Villa; L D Notarangelo; J P Di Santo; P P Macchi; D Strina; A Frattini; F Lucchini; C M Patrosso; S Giliani; E Mantuano
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-15       Impact factor: 11.205
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.