ArticleMammalian genome : official journal of the International Mammalian Genome Society1994
A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- The pseudogene problem and RT-qPCR data normalization; SYMPK: a suitable reference gene for papillary thyroid carcinoma.Scientific reports · 2020Article
- Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.Genome research · 2003Article
- Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.Journal of medical genetics · 2001Article
- An integrated physical map for the short arm of human chromosome 5.Genome research · 1999Article
- Spinal muscular atrophy: untangling the knot?Journal of medical genetics · 1999Review
- Article
- Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.American journal of human genetics · 1998Article
- The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3.Mammalian genome : official journal of the International Mammalian Genome Society · 1998Article
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.American journal of human genetics · 1997Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
- Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.American journal of human genetics · 1996Article
- Gene deletions in spinal muscular atrophy.Journal of medical genetics · 1996Article
- Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
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