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Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a
J M Vidal-Taboada1, A Lu, M Pique
1Human Genetics Research Group, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Faculty of Medicine, University of Barcelona, Spain.
Abstract:
The isolation of the genes located in chromosome 21 and the characterisation of their function are essential steps towards the understanding of the physiopathological mechanisms involved in Down syndrome. We have used two complementary approaches to characterise the function of the novel gene DSCR2 (Down Syndrome Critical Region gene 2): the isolation and characterisation of the mouse gene homologue to the human DSCR2 gene, and the analysis of the expression of the gene in different human cell lines. We have isolated and characterised a 1012 bp of a mouse cDNA having a high homology to the human DSCR2 gene. The predicted mouse dscr2 protein has an identity of 85.4% as compared to the human protein, indicating that the DSCR2 protein has been conserved during the evolution. However, the amino acid sequence is not homologous to other known proteins, or to known protein domains. The dscr2 gene is expressed throughout all the stages of the mouse embryo development. In the adult mouse the gene is expressed in testis, kidney, liver, brain, heart, skeletal muscle, and pancreas. The expression analysis of the DSCR2 gene in different human tumour derived cell lines indicates that the gene is expressed in all proliferating cell lines tested. The levels of the DSCR2 mRNA correlate with cellular growth of T98G and Jurkat cells in response to different treatments. The expression pattern throughout the foetal development together with the correlation observed with the cell cycle indicates a possible function for the DSCR2 gene related to cell proliferation.
Insights
The novel DSCR2 (Down Syndrome Critical Region gene 2) gene is conserved in mice and humans. Its expression during development and in proliferating cells suggests a role in cell growth.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Understanding genes on chromosome 21 is crucial for Down syndrome research.
- The function of the novel gene DSCR2 (Down Syndrome Critical Region gene 2) is largely unknown.
Purpose of the Study:
- To characterize the function of the DSCR2 gene.
- To investigate the evolutionary conservation and expression patterns of DSCR2.
Main Methods:
- Isolation and characterization of the mouse DSCR2 gene homolog.
- Analysis of DSCR2 gene expression in mouse embryos and adult tissues.
- Expression analysis of DSCR2 in human tumor-derived cell lines.
Main Results:
- A mouse cDNA homologous to human DSCR2 was isolated, with 85.4% protein identity, indicating evolutionary conservation.
- The mouse dscr2 gene is expressed throughout embryonic development and in various adult tissues.
- DSCR2 is expressed in all tested proliferating human cell lines, with mRNA levels correlating to cellular growth.
Conclusions:
- The DSCR2 gene is highly conserved between humans and mice.
- The expression pattern of DSCR2 during development and its correlation with cell proliferation suggest a role in cell cycle regulation.