Literature DB >> 7894161

A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene.

C A Sargent1, I J Chalmers, M Leversha, N A Affara.   

Abstract

A novel transcript containing homology to exons 5, 9, 10, and 11 of the beta-glucuronidase gene has been shown to be derived from Chromosome (Chr) 5. In situ hybridization analysis has shown that this transcript is homologous to four loci on Chr 5 (5p13.3, 5p15.1, 5q13.1, and 5q15), two loci on Chr 6 (6p11.2 and 6p21.3), and one on Chr 22 at 22q11.2. Analysis of cosmid clones from Chr 5 has defined three distinct contigs in which there are tandem genomic repeats of a unit containing sequences homologous to exons 5, 9, and 10 but not 11. Pulsed-field gel electrophoresis (PFGE) analysis has shown that the length of these repeats is highly variable between unrelated individuals, indicating that these regions of Chr 5 are prone to rearrangement. These sequences may be important with respect to stability around the Chr 5 centromere.

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Year:  1994        PMID: 7894161     DOI: 10.1007/bf00292015

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  14 in total

1.  Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig.

Authors:  Y L Zheng; M A Ferguson-Smith; J P Warner; M E Ferguson-Smith; C A Sargent; N P Carter
Journal:  Prenat Diagn       Date:  1992-11       Impact factor: 3.050

2.  A human immunoglobulin kappa orphon without sequence defects may be the product of a pericentric inversion.

Authors:  C Huber; R Thiebe; H Hameister; H Smola; E Lötscher; H G Zachau
Journal:  Nucleic Acids Res       Date:  1990-06-25       Impact factor: 16.971

3.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

4.  Cloning and characterization of the human beta-glucuronidase gene.

Authors:  R D Miller; J W Hoffmann; P P Powell; J W Kyle; J M Shipley; D R Bachinsky; W S Sly
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

5.  Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.

Authors:  A Oshima; J W Kyle; R D Miller; J W Hoffmann; P P Powell; J H Grubb; W S Sly; M Tropak; K S Guise; R A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  1987-02       Impact factor: 11.205

6.  A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

Authors:  M J Francis; K E Morrison; L Campbell; P K Grewal; Z Christodoulou; R J Daniels; A P Monaco; A M Frischauf; J McPherson; J Wasmuth
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

7.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

8.  Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.

Authors:  J M Shipley; M Klinkenberg; B M Wu; D R Bachinsky; J H Grubb; W S Sly
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

9.  An X-linked zinc finger gene mapping to Xq21.1-q21.3 closely related to ZFX and ZFY: possible origins from a common ancestral gene.

Authors:  S L Lloyd; C A Sargent; J Chalmers; E Lim; S S Habeebu; N A Affara
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

10.  Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution.

Authors:  A Tunnacliffe; L Liu; J K Moore; M A Leversha; M S Jackson; L Papi; M A Ferguson-Smith; H J Thiesen; B A Ponder
Journal:  Nucleic Acids Res       Date:  1993-03-25       Impact factor: 16.971

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  12 in total

1.  An integrated physical map for the short arm of human chromosome 5.

Authors:  E T Peterson; R Sutherland; D L Robinson; L Chasteen; M Gersh; J Overhauser; L L Deaven; R K Moyzis; D L Grady
Journal:  Genome Res       Date:  1999-12       Impact factor: 9.043

2.  Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.

Authors:  Anouk Courseaux; Florence Richard; Josiane Grosgeorge; Christine Ortola; Agnes Viale; Claude Turc-Carel; Bernard Dutrillaux; Patrick Gaudray; Jean-Louis Nahon
Journal:  Genome Res       Date:  2003-03       Impact factor: 9.043

3.  Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Authors:  H F Sutherland; R Wadey; J M McKie; C Taylor; U Atif; K A Johnstone; S Halford; U J Kim; J Goodship; A Baldini; P J Scambler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

Review 4.  Molecular genetics of autosomal recessive spinal muscular atrophy.

Authors:  N R Rodrigues; K Talbot; K E Davies
Journal:  Mol Med       Date:  1996-07       Impact factor: 6.354

5.  Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

Authors:  L Campbell; R J Daniels; V Dubowitz; K E Davies
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

6.  Gene deletions in spinal muscular atrophy.

Authors:  N R Rodrigues; N Owen; K Talbot; S Patel; F Muntoni; J Ignatius; V Dubowitz; K E Davies
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

7.  Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.

Authors:  L Campbell; A Potter; J Ignatius; V Dubowitz; K Davies
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

Review 8.  Spinal muscular atrophy: untangling the knot?

Authors:  I Biros; S Forrest
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

9.  Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.

Authors:  S Selig; S Bruno; J M Scharf; C H Wang; E Vitale; T C Gilliam; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  1995-04-25       Impact factor: 11.205

10.  The pseudogene problem and RT-qPCR data normalization; SYMPK: a suitable reference gene for papillary thyroid carcinoma.

Authors:  Seyed-Morteza Javadirad; Mohammad Mokhtari; Ghazal Esfandiarpour; Mohsen Kolahdouzan
Journal:  Sci Rep       Date:  2020-10-27       Impact factor: 4.379

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