Molecular Basis of Feline β-Glucuronidase Deficiency: An Animal Model of Mucopolysaccharidosis VII

Fyfe, John C.; Kurzhals, Rebeccah L.; Lassaline, Mary; Henthorn, Paula S.; Alur, Prasad; Wang, Ping; Wolfe, John H.; Giger, Urs; Haskins, Mark E.; Patterson, Donald F.; Sun, Huaichang; Jain, Sanjeev; Yuhki, Naoya

doi:10.1006/geno.1999.5825

Cited by 72 publications

(51 citation statements)

References 31 publications

(37 reference statements)

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“…The domestic cat has long played a role in comparative medicine beginning with comparative anatomy, physiology, and biochemistry, extending to the present, in which the species provides numerous models for human heritable and infectious disease (http://www.angis.org.au/Databases/BIRX/omia/) including lysosomal storage diseases (Yogalingam et al 1996;Berg et al 1997;Fyfe et al 1999), polycystic kidney disease (Biller 1996), and AIDS (FIV-feline immunodeficiency virus; Willett et al 1997). The domestic cat also provides a valuable reference for comparative genome analysis, displaying remarkable syntenic conservation relative to the human genome (O'Brien et al 1997a(O'Brien et al ,b, 1999Rettenberger et al 1995;Wienberg et al 1997).…”

mentioning

confidence: 99%

A Radiation Hybrid Map of the Cat Genome: Implications for Comparative Mapping

Murphy¹,

Sun²,

Chen³

et al. 2000

Genome Res.

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Ordered gene maps of mammalian species are becoming increasingly valued in assigning gene variants to function in human and animal models, as well as recapitulating the natural history of genome organization. To extend this power to the domestic cat, a radiation hybrid (RH) map of the cat was constructed integrating 424 Type I-coding genes with 176 microsatellite markers, providing coverage over all 20 feline chromosomes. Alignment of parallel RH maps of human and cat reveal 100 conserved segments ordered (CSOs) between the species, nearly three times the number observed with reciprocal chromosome painting analyses. The observed number is equivalent to theoretical predictions of the number of conserved segments to be found between cat and human, implying that 300-400 Type I gene markers is sufficient to reveal nearly all conserved segments for species that exhibit the most frequently observed "slow" rate of genome reorganization. The cat-human RH map comparisons provide a new genomic tool for comparative gene mapping in the cat and related Felidae, and provide confirmation that the cat genome organization is remarkably conserved compared with human. These data demonstrate that ordered RH-based gene maps provide the most precise assessment of comparing genomes, short of contig construction or full-sequence determination.

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mentioning

confidence: 99%

A Radiation Hybrid Map of the Cat Genome: Implications for Comparative Mapping

Murphy¹,

Sun²,

Chen³

et al. 2000

Genome Res.

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121

100

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“…The clinical signs and together with urinary glycosaminoglycan analysis demonstrating increased dermatan sulphate and chondroitin sulphate, suggested a lysosomal storage disorder. Assay of several lysosomal enzyme activities revealed one, β-glucuronidase, in the patient's plasma to have no activity when compared with plasma from normal cats, documenting the diagnosis of MPS VII (β-glucuronidase deficiency), which has also been found in domestic short-haired cats (Fyfe et al, 1999;Gitzelmann et al, 1994;Schultheiss et al, 2000) and German shepherd dogs (Haskins et al, 1984;Silverstein-Dombrowski et al, 2004).…”

Section: Diagnostic Proceduresmentioning

confidence: 86%

Inherited metabolic disease in companion animals: Searching for nature’s mistakes

Sewell

Haskins

Giger

2007

The Veterinary Journal

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Inborn errors of metabolism are caused by genetic defects in intermediary metabolic pathways. Although long considered to be the domain of human paediatric medicine, they are also recognised with increasing frequency in companion animals. The diagnosis of diseased animals can be achieved by searching for abnormal metabolites in body fluids, although such screening programmes have, until now, not been widely available to the small animal clinician. A comprehensive battery of analytical tools exists for screening for inborn metabolic diseases in humans which can be applied to animals and serve not only for the diagnosis of affected patients but also to detect asymptomatic carriers and further our understanding of metabolic pathways in dogs and cats. Moreover, naturally occurring animal models of inherited metabolic diseases provide a unique opportunity to study the biochemical and molecular pathogenesis of these disorders and to investigate possible therapeutic options.

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“…PolyA RNA was selected by oligo dT chromatography from 100 μg of total liver RNA of a normal and a GSD IV affected cat as previously described [16]. RNA samples were electrophoresed on 1% formaldehyde gels and transferred to a nitrocellulose membrane by standard blotting methods [17].…”

Section: Northern and Southern Blottingmentioning

confidence: 99%

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

Fyfe

Kurzhals

Hawkins

et al. 2007

Molecular Genetics and Metabolism

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Deficiency of glycogen branching enzyme (GBE) activity causes glycogen storage disease type IV (GSD IV), an autosomal recessive error of metabolism. Abnormal glycogen accumulates in myocytes, hepatocytes, and neurons, causing variably progressive, benign to lethal organ dysfunctions. A naturally occurring orthologue of human GSD IV was described previously in Norwegian forest cats (NFC). Here we report that while most affected kittens die at or soon after birth, presumably due to hypoglycemia, survivors of the perinatal period appear clinically normal until onset of progressive neuromuscular degeneration at 5 months of age. Molecular investigation of affected cats revealed abnormally spliced GBE1 mRNA products and lack of GBE cross-reactive material in liver and muscle. Affected cats are homozygous for a complex rearrangement of genomic DNA in GBE1, constituted by a 334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp), removing exon 12. An allele-specific, PCR-based test demonstrates that the rearrangement segregates with the disease in the GSD IV kindred and is not found in unrelated normal cats. Screening of 402 privately owned NFC revealed 58 carriers and 4 affected cats. The molecular characterization of feline GSD IV will enhance further studies of GSD IV pathophysiology and development of novel therapies in this unique animal model.

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Molecular Basis of Feline β-Glucuronidase Deficiency: An Animal Model of Mucopolysaccharidosis VII

Cited by 72 publications

References 31 publications

A Radiation Hybrid Map of the Cat Genome: Implications for Comparative Mapping

A Radiation Hybrid Map of the Cat Genome: Implications for Comparative Mapping

Inherited metabolic disease in companion animals: Searching for nature’s mistakes

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

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