Disease relevance of JUP

• AIMS: To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin (JUP), respectively [1].

High impact information on JUP

• In the adherens junction plakoglobin interacts with both the classical cadherin and with alpha-catenin [2].
• We could find no evidence that the transcription promoter for JUP is methylated in tumour DNAs having LOH at 17q21 [3].
• This was of interest since earlier studies have shown that JUP expression is altered in breast, lung and thyroid tumours as well as cell lines having LOH in chromosome 17q21 [3].
• The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively [4].
• In culture, the mRNA expression of JUP and DPK1, but not DSC1-3 and DSG1-3, was detected in all DPF clones tested and also in odontoblast-like cells (OB) expressing osteocalcin and dentin sialophosphoprotein mRNAs established in the differentiation medium [5].

Biological context of JUP

• CONCLUSION: Mutations in PKP2 and JUP express similar cardiac phenotype [1].

Anatomical context of JUP

• Unlike wild-type (WT) DSP, the N-terminal mutants (V30M and Q90R) failed to localize to the cell membrane in desomosome-forming cell line and failed to bind to and coimmunoprecipitate JUP [6].

Other interactions of JUP

• Sixteen of 22 PKP2 carriers and all 26 homozygous JUP carriers fulfilled the diagnostic criteria for ARVC, the youngest by the age of 13 years [1].

References