Glycogen debranching enzyme is involved in glycogen degradation and has two independent catalytic activities, a 4-a-glucanotransferase activity (EC2.4.1.25) and an amylo-1,6-glucosidase activity (EC 3.4.1.33). Both activities occur at different sites on the single polypeptide chain. In human, remarkable clinical and enzymatic variability occurs in glycogen debrancher deficiency. The enzyme appears to be encoded by a single gene, AGL, which, in human, has 35 exons spanning 85 kb of genomic DNA. There are at least six isoforms of AGL as a result of alternative splicing. In this study we mapped this gene to porcine chromosome 4 using linkage analysis and radiation hybrid mapping. . The human gene maps to chromosome 1p212 . To study the porcine AGL gene PCR primers (pair 1) were designed using human genomic DNA sequence, exons 26 and 273 (EMBL accession numbers AB035435, AB035436). The 4.2-kb fragment was cloned and end-sequenced to verify the identity with AGL
Characterization of a SINE indel polymorphism in the porcine AGL gene and assignment of the gene to chromosome 4q / Stratil A.; Blazkova P.; Kopecny M.; Bartenschlager H.; Van Poucke M.; Peelman L.J.; Fontanesi L.; Davoli R.; Scotti E.; Russo V.; Geldermann H.. - In: ANIMAL GENETICS. - ISSN 0268-9146. - STAMPA. - 34:2(2003), pp. 146-148. [10.1046/j.1365-2052.2003.00965_1.x]
Characterization of a SINE indel polymorphism in the porcine AGL gene and assignment of the gene to chromosome 4q
Fontanesi L.;Davoli R.;Russo V.;
2003
Abstract
Glycogen debranching enzyme is involved in glycogen degradation and has two independent catalytic activities, a 4-a-glucanotransferase activity (EC2.4.1.25) and an amylo-1,6-glucosidase activity (EC 3.4.1.33). Both activities occur at different sites on the single polypeptide chain. In human, remarkable clinical and enzymatic variability occurs in glycogen debrancher deficiency. The enzyme appears to be encoded by a single gene, AGL, which, in human, has 35 exons spanning 85 kb of genomic DNA. There are at least six isoforms of AGL as a result of alternative splicing. In this study we mapped this gene to porcine chromosome 4 using linkage analysis and radiation hybrid mapping. . The human gene maps to chromosome 1p212 . To study the porcine AGL gene PCR primers (pair 1) were designed using human genomic DNA sequence, exons 26 and 273 (EMBL accession numbers AB035435, AB035436). The 4.2-kb fragment was cloned and end-sequenced to verify the identity with AGLI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
