Literature DB >> 8381385

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome.

S Marcus1, D Hellgren, B Lambert, S P Fällström, J Wahlström.   

Abstract

We have determined the structure, at the nucleotide sequence level, of a duplication in the hprt gene in a patient with Lesch-Nyhan syndrome (LN). The duplication extends over exons 7 and 8 and approximately 1.8 kb of the surrounding hprt sequence. The duplication junction is localized within two Alu sequences and has apparently been generated by unequal homologous recombination. This is the second reported case of a partial duplication of the hprt gene in an LN patient, and the first that involves an Alu-Alu recombination.

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Year:  1993        PMID： 8381385     DOI： 10.1007/bf00217444

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  23 in total

1.  Detection of somatic DNA recombination in the transgenic mouse brain.

Authors:  M Matsuoka; F Nagawa; K Okazaki; L Kingsbury; K Yoshida; U Müller; D T Larue; J A Winer; H Sakano
Journal:  Science       Date:  1991-10-04       Impact factor: 47.728

2.  Recombination at the human alpha-globin gene cluster: sequence features and topological constraints.

Authors:  R D Nicholls; N Fischel-Ghodsian; D R Higgs
Journal:  Cell       Date:  1987-05-08       Impact factor: 41.582

3.  Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia.

Authors:  M A Lehrman; J L Goldstein; D W Russell; M S Brown
Journal:  Cell       Date:  1987-03-13       Impact factor: 41.582

4.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

5.  Rapid transfer of DNA from agarose gels to nylon membranes.

Authors:  K C Reed; D A Mann
Journal:  Nucleic Acids Res       Date:  1985-10-25       Impact factor: 16.971

6.  Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

Authors:  P I Patel; P E Framson; C T Caskey; A C Chinault
Journal:  Mol Cell Biol       Date:  1986-02       Impact factor: 4.272

7.  Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

Authors:  R A Gibbs; P N Nguyen; A Edwards; A B Civitello; C T Caskey
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

8.  Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

Authors:  T P Yang; P I Patel; A C Chinault; J T Stout; L G Jackson; B M Hildebrand; C T Caskey
Journal:  Nature       Date:  1984 Aug 2-8       Impact factor: 49.962

9.  Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Authors:  R A Gibbs; P N Nguyen; L J McBride; S M Koepf; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

10.  Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

Authors:  M A Lehrman; W J Schneider; T C Südhof; M S Brown; J L Goldstein; D W Russell
Journal:  Science       Date:  1985-01-11       Impact factor: 47.728
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  7 in total

1.  RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.

Authors:  H B Urnovitz; J J Tuite; J M Higashida; W H Murphy
Journal:  Clin Diagn Lab Immunol       Date:  1999-05

2.  Factors affecting ectopic gene conversion in mice.

Authors:  D M Cooper; K J Schimenti; J C Schimenti
Journal:  Mamm Genome       Date:  1998-05       Impact factor: 2.957

3.  Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.

Authors:  J Heikkinen; T Toppinen; H Yeowell; T Krieg; B Steinmann; K I Kivirikko; R Myllylä
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

4.  Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

Authors:  R Carrozzo; E Rossi; S L Christian; K Kittikamron; C Livieri; A Corrias; L Pucci; A Fois; P Simi; L Bosio; L Beccaria; O Zuffardi; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

5.  Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

Authors:  B Pousi; T Hautala; J Heikkinen; L Pajunen; K I Kivirikko; R Myllylä
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

6.  High frequency of genomic deletions induced by Me-lex, a sequence selective N3-adenine methylating agent, at the Hprt locus in Chinese hamster ovary cells.

Authors:  Debora Russo; Gilberto Fronza; Laura Ottaggio; Paola Monti; Alberto Inga; Prema Iyer; Barry Gold; Paola Menichini
Journal:  Mutat Res       Date:  2009-09-01       Impact factor: 2.433

Review 7.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501
  7 in total

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