Apr 12, 2005

Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes

Human Genetics
Thorsten PfuhlFriedrich A Grässer


The DiGeorge critical region 6 (DGCR6) gene exists in two highly homologous copies (DGCR6 and DGCR6L) on chromosome 22q11 and is deleted in patients with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). The DGCR6 mRNA levels are increased in metastatic mammary tumour cells and regulate the expression of neighbouring genes at the 22q11 region. Newly developed monoclonal antibodies detected predominantly nuclear phosphoproteins of approximately 25 kDa, with low expression levels in the cytoplasm. Both proteins have half-lives of about 2.5 h. Exogenously expressed DGCR6 and DGCR6L migrated with slightly different mobility in SDS-gels in accordance with two immunoreactive bands observed for the endogenous proteins. DGCR6 is found at low levels in primary human fibroblasts or peripheral blood mononuclear cells, while tumour cells, B-cells transformed by EBV as well as activated normal human T cells, contain elevated levels of the proteins. The proteins are differentially expressed in mammalian tissues, with high protein levels in heart, liver and skeletal muscle. These observations are important as some patients with DGCR6 syndrome exhibit a T-cell deficiency and/or cardiac malformations. As the DGCR6 protein(s) influence g...Continue Reading

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Mentioned in this Paper

Monoclonal Antibodies
Tumor Cells, Uncertain Whether Benign or Malignant
Monoclonal antibodies, antineoplastic
chromosome 22q11
TBX1 wt Allele
Specimen Type - Fibroblasts
DGCR6 protein, human
Mammary Gland

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