Literature DB >> 2159433

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

S Murru1, L Casula, M Pecorara, P Mori, A Cao, M Pirastu.   

Abstract

We have characterized an unusual duplication of exon 13 within the factor VIII gene in a patient with a mild form of hemophilia A. This duplication was the result of a nonhomologous breakage and reunion event of two misaligned wild-type chromosomes. Sequence analysis of the breakpoint region revealed the presence of AT-rich sequences and possible topoisomerase I sites, whose involvement in several cases of illegitimate recombination has been postulated.

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Year:  1990        PMID： 2159433     DOI： 10.1016/0888-7543(90)90526-z

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  6 in total

1.  Population variation in the A chromosome distribution of satellite DNA and ribosomal DNA in the grasshopper Eyprepocnemis plorans.

Authors:  J Cabrero; F Perfectti; R Gómez; J P M Camacho; M D López-León
Journal:  Chromosome Res       Date:  2003       Impact factor: 5.239

2.  New nucleotide sequence data on the EMBL File Server.

Authors: 
Journal:  Nucleic Acids Res       Date:  1990-10-11       Impact factor: 16.971

3.  Two large Arabidopsis thaliana gene families are homologous to the Brassica gene superfamily that encodes pollen coat proteins and the male component of the self-incompatibility response.

Authors:  V Vanoosthuyse; C Miege; C Dumas; J M Cock
Journal:  Plant Mol Biol       Date:  2001-05       Impact factor: 4.076

4.  Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

Authors:  Nathalie Lannoy; Bernard Grisart; Stéphane Eeckhoudt; Christine Verellen-Dumoulin; Catherine Lambert; Miikka Vikkula; Cédric Hermans
Journal:  Eur J Hum Genet       Date:  2013-01-09       Impact factor: 4.246

5.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

6.  Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.

Authors:  X Y Hu; P N Ray; R G Worton
Journal:  EMBO J       Date:  1991-09       Impact factor: 11.598
  6 in total

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