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Multiple Levels of Control of the Expression of the Human AβH‐J‐J Locus Encoding Aspartyl‐β‐hydroxylase, Junctin, and Junctate
Author(s) -
FERIOTTO GIORDANA,
FINOTTI ALESSIA,
BREVEGLIERI GIULIA,
TREVES SUSAN,
ZORZATO FRANCESCO,
GAMBARI ROBERTO
Publication year - 2006
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1378.065
Subject(s) - endoplasmic reticulum , promoter , alternative splicing , exon , biology , rna splicing , gene , transcription (linguistics) , transcriptional regulation , locus (genetics) , transcription factor , microbiology and biotechnology , genetics , gene expression , rna , linguistics , philosophy
The human AβH‐J‐J locus is a genomic sequence which generates three functionally distinct proteins, the enzyme aspartyl‐β‐hydroxylase (AβH), the structural protein of sarcoplasmic reticulum junctin, and the membrane‐bound calcium binding protein junctate. The first and second exons are mutually exclusive when mature mRNAs are produced. Moreover, the use of different splice donors has been shown to be involved in the generation of protein diversity by alternative splicing. As to transcriptional regulation, two promoters (P1 and P2) were identified. When the P1 and P2 promoter sequences are compared, important differences are clearly detectable. The most interesting result emerging from studies focused on the P2 promoter is that the calcium‐dependent transcriptional factor MEF‐2 activates the transcription of junctin, junctate, and AβH in excitable tissues and, to a lesser extent, in kidney. No Sp1 binding sites are present in the P2 promoter. In contrast, P1 promoter contains GC‐rich sequences, which have homologies with the Sp1 consensus binding site.