High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.
Gaucher disease is due to mutations involving the glucocerebrosidase gene. A closely homologous pseudogene is located approximately 16 kD downstream from the functional gene. Sequence analysis of clones from cDNA libraries made from skin fibroblast cultures showed several independent clones with the sequence of an aberrantly processed pseudogene message. Examination of cellular RNA from lymphoblasts or fibroblasts obtained from thirteen Gaucher disease patients, one Gaucher disease heterozygote, and four normal subjects showed that the pseudogene was consistently transcribed, and that in some cases the level of transcription seemed to be approximately equal to that of the functional gene. The transcription of the pseudogene must be taken into account when attempting to detect mutations of glucocerebrosidase by the study of cDNA libraries.
21 references, click to expand
-
Quantitation of mRNA by the polymerase chain reaction.Proc Natl Acad Sci U S A. 1989 Dec;86(24):9717-21 PMID: 2481313
-
DNA sequencing with chain-terminating inhibitors.Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7 PMID: 271968
-
The human glucocerebrosidase gene has two functional ATG initiator codons.Am J Hum Genet. 1987 Dec;41(6):1016-24 PMID: 3687939
-
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.Am J Hum Genet. 1989 Aug;45(2):212-25 PMID: 2502917
-
Differential expression of the human glucocerebrosidase-coding gene.Gene. 1988 Dec 20;73(2):469-78 PMID: 2468581
-
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.Lancet. 1989 Aug 12;2(8659):349-52 PMID: 2569551
-
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.Am J Hum Genet. 1986 Dec;39(6):763-74 PMID: 3026174
-
Absolute mRNA quantification using the polymerase chain reaction (PCR). A novel approach by a PCR aided transcript titration assay (PATTY).Nucleic Acids Res. 1989 Nov 25;17(22):9437-46 PMID: 2479917
-
An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.N Engl J Med. 1987 Oct 15;317(16):985-90 PMID: 3657865
-
Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype.J Biol Chem. 1989 Feb 25;264(6):3588-95 PMID: 2464599
-
The human glucocerebrosidase gene and pseudogene: structure and evolution.Genomics. 1989 Jan;4(1):87-96 PMID: 2914709
-
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.J Biol Chem. 1988 Jun 25;263(18):8561-4 PMID: 2454224
-
Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences.Proc Natl Acad Sci U S A. 1989 Jul;86(13):5049-53 PMID: 2740343
-
Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene.Nature. 1987 Apr 2-8;326(6112):501-5 PMID: 3453121
-
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.Proc Natl Acad Sci U S A. 1985 Nov;82(21):7289-93 PMID: 3864160
-
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.J Clin Invest. 1990 Jan;85(1):219-22 PMID: 2295698
-
Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction.Proc Natl Acad Sci U S A. 1990 Apr;87(7):2725-9 PMID: 2181447
-
The structure of eight distinct cloned human leukocyte interferon cDNAs.Nature. 1981 Mar 5;290(5801):20-6 PMID: 6163083
-
A catalogue of splice junction sequences.Nucleic Acids Res. 1982 Jan 22;10(2):459-72 PMID: 7063411
-
Gel electrophoresis of restriction fragments.Methods Enzymol. 1979;68:152-76 PMID: 232210
-
Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA.Cell. 1986 Nov 21;47(4):555-65 PMID: 3779836
Contact
No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong
Qilu Normal University · Genelibs Bioinformatics Lab
750 Shunhua Rd, Jinan
2F, Bldg F, University Science Park
Tel: 0531-88819269
WeChat Official Account
Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.
Business Email
E-mail: product@genelibs.com
Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2
