Characterization of the equine glycogen debranching enzyme gene (AGL): Genomic and cDNA structure, localization, polymorphism and expression
| Autor: | Bérénice Herszberg, Elena Giulotto, Pauline Decaunes, Francesca M. Piras, Stéphane Chaffaux, Xavier Mata, Bhanu P. Chowdhary, Gérard Guérin |
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| Přispěvatelé: | Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Dipartimento di Genetica e Microbiologia Adriano Buzzati-Traverso, Università di Pavia, Molecular Cytogenetics Laboratory, Texas A&M University [College Station], Università degli Studi di Pavia, Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), ProdInra, Migration |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
[SDV]Life Sciences [q-bio]
Gene Expression MESH: Amino Acid Sequence MESH: Base Sequence GENE AGL Exon 0302 clinical medicine AGL GENE Glycogen storage disease Tissue Distribution MESH: Animals Promoter Regions Genetic ComputingMilieux_MISCELLANEOUS Genetics 0303 health sciences MESH: Alternative Splicing MESH: Genomics Chromosome Mapping Genomics General Medicine [SDV] Life Sciences [q-bio] Gene isoform DNA Complementary MESH: Gene Expression Molecular Sequence Data MESH: Sequence Alignment GLYCOGEN Biology Chromosomes Glycogen debranching enzyme 03 medical and health sciences Complementary DNA [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN] MESH: Polymorphism Genetic MESH: Promoter Regions Genetic medicine Animals Amino Acid Sequence Horses RNA Messenger MESH: Glycogen Debranching Enzyme System MESH: Tissue Distribution MESH: Horses Gene 030304 developmental biology MESH: RNA Messenger Polymorphism Genetic MESH: Molecular Sequence Data Base Sequence Alternative splicing Glycogen Debranching Enzyme System MESH: DNA Complementary medicine.disease Molecular biology Alternative Splicing Open reading frame MESH: Chromosomes MESH: Chromosome Mapping Sequence Alignment 030217 neurology & neurosurgery |
| Zdroj: | Gene Gene, Elsevier, 2007, 404 (1-2), pp.1-9. ⟨10.1016/j.gene.2007.07.034⟩ Gene, Elsevier, 2007, 404, pp.1-9 |
| ISSN: | 0378-1119 1879-0038 |
| DOI: | 10.1016/j.gene.2007.07.034⟩ |
| Popis: | International audience; Glycogen debranching enzyme (AGL) is a multifunctional enzyme acting in the glycogen degradation pathway. In humans, the AGL activity deficiency causes a type III glycogen storage disease (Cori-Forbes disease). One particularity of AGL gene expression lies in the multiple alternative splicing in its 5' region. The AGL gene was localized on ECA5q14-q15. The sequence of the equine cDNA was determined to be 7.5 kb in length with an open reading frame of 4602 bp. The gene is 69 kb long and contains 35 exons. The equine AGL gene has an ubiquitous expression and presents five tissue-dependent cDNA variants arising from alternative splicing of the first exons. The equine skeletal muscle and heart contain four out of six variants previously described in humans and the equine liver express three of these four human variants. We identified a new alternative splicing variant expressed in equine skeletal and heart muscles. All these mRNA variants most probably encode only two different protein isoforms of 1533 and 1377 amino-acids. Four SNPs were detected in the mRNA. The equine in silico promoter sequence reveals a structure similar to those of other mammalian species. The disposition of the transcription factor biding sites does not correlate to the transcription start sites of tissue-specific variants. |
| Databáze: | OpenAIRE |
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