Cloning and characterization of the human β-glucuronidase gene

Miller, Raymond D.; Hoffmann, Joseph W.; Powell, Penny P.; Kyle, John W.; Shipley, Janet; Bachinsky, David R.; Sly, W S

doi:10.1016/0888-7543(90)90552-6

Cited by 49 publications

(21 citation statements)

References 15 publications

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“…Amplification with GUSB6F (5)-GAT CCA CCT CTG ATG TTC AC-3)) and GUSB7R (5)-CCT TTA GTG TTC CCT GCT AG-3)) results in a 454-bp fragment in cDNA spanning exon 11 and exon 12. Genomic DNA is not amplified due to a large intervening sequence ( 1 3 kb) (Miller et al, 1990). To monitor amplification within the exponential range, 10 Ìl of the PCR reactions after 28 and 33 cycles were separated on a 1.5 % agarose gel stained with ethidium bromide and the band intensities were compared.…”

Section: Expression Analysismentioning

confidence: 99%

EST mining of the UniGene dataset to identify retina-specific genes

Stöhr¹,

Mah²,

Schulz³

et al. 2000

Cytogenet Genome Res

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Age-related macular degeneration (AMD) is a multifactorial disorder affecting the visual system with a high prevalence among the elderly population but with no effective therapy available at present. To better understand the pathogenesis of this disorder, the identification of the genetic factors and the determination of their contribution to AMD is needed. Towards this goal, we are pursuing a strategy that makes use of the EST data processed in the UniGene database and aims at the generation of a comprehensive catalogue of genes preferentially active in the human retina. Subsequently, these genes will be systematically assessed in AMD. We performed a retina EST sampling and obtained a total of 673 clusters containing only retina ESTs as well as 568 clusters with at least 30% of the ESTs in each cluster originating from retina cDNA libraries. Of these, 180 representative EST clusters with varying retina and non-retina EST contents were analyzed for their in vitro expression. This approach identified 39 transcripts with retina-specific expression. One of these genes (C18orf2) mapping to chromosome 18 was further characterized. Multiple C18orf2 transcripts display a complex pattern of differential splicing in the human retina. The various isoforms encode hypothetical polypeptides with no homologies to known proteins or protein motifs.

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Section: Expression Analysismentioning

confidence: 99%

EST mining of the UniGene dataset to identify retina-specific genes

Stöhr¹,

Mah²,

Schulz³

et al. 2000

Cytogenet Genome Res

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“…In addition a severe neonatal form of MPS VII exists, which is already present during pregnancy as a hydrops fetalis (Wu and Sly, 1993). The cDNA (Oshima et al, 1987) and the beta-D-glucuronidase gene have been cloned (Miller et al, 1990). So far, 49 unique disease-causing mutations were determined in the GUS gene, including nine novel mutations (eight missense and one splice-site).…”

Section: Mucopolysaccharidosis Type VIImentioning

confidence: 99%

Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease

Arfi¹,

Richard²,

Scherman³

2012

Latest Findings in Intellectual and Developmental Disabilities Research

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“…Cloning, sequencing, and expression of human GUSB cDNA as well as the study of the genomic organization of the gene were achieved [Guise et al, 1985;Oshima et al, 1987;Miller et al, 1990;Shipley et al, 19911. Recently the sequencing of the GUSB cDNA from a 6-year-old Japanese girl with a mild course of MPSs VII showed a C+ T transition in the coding sequence of the gene causing a single Ala619+Val change; this GUSB mutation was named "Gifu" [Tomatsu et al, 19901.…”

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confidence: 99%

Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): A chronic variant with an oligosymptomatic severe skeletal dysplasia

Kremer¹,

Givogri²,

Argaraña

et al. 1992

Am. J. Med. Genet.

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We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, herniae, corneal clouding, and neurological abnormalities were absent. Although he had Alder-type granulations in his polymorphonuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. Electron microscopic examination of skin and gingival biopsies, leukocytes, and cultured skin fibroblasts showed numerous single membrane-limited vacuoles either empty or filled with fibrillogranular material; this last tissue did not contain metachromatic granules. Radiographs demonstrated a distinct spondyloepiphyseal dysplasia in which the most striking changes were confined to the thoracic spine (flattening and collapse in T7, T8 and T10 vertebral bodies) and to the femoral capital epiphyses (irregularities and fragmentation). The activity of GUSB in the patient's serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal. Immunoblot analysis showed very low levels of cross-reactive material towards anti-GUSB antiserum in the patient's leukocyte and fibroblast extracts. This patient was more severely affected in his skeleton than other described patients with an oligosymptomatic chronic form. This case broadens the clinical and biochemical picture associated with GUSB deficiency and may represent a new variant of the disease.

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Cloning and characterization of the human β-glucuronidase gene

Cited by 49 publications

References 15 publications

EST mining of the UniGene dataset to identify retina-specific genes

EST mining of the UniGene dataset to identify retina-specific genes

Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease

Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): A chronic variant with an oligosymptomatic severe skeletal dysplasia

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