Disease relevance of CSMD1

• CSMD1 is a putative suppressor of squamous cell carcinomas mapping to human chromosomal region 8p23 [1].

High impact information on CSMD1

• Of particular significance is the enrichment of CSMD1 in the nerve growth cone, the amoeboid-leading edge of the growing neuron [2].
• CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues [2].
• However, deletion mapping with STSs corresponding to the exons of CSMD1 shows that some of the deletions do not interrupt its coding region, and in other cell lines the coding region is interrupted by two discontinuous homozygous deletions, suggesting the presence of redundant deletions [3].
• The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis [3].
• Functional overlap between the CSMD1 and the CSMD2 proteins may modify the phenotype resulting from the loss of either protein in tumors [1].

Biological context of CSMD1

• It showed significant homology to two genes, CSMD1 gene on 8p23 and CSMD2 gene on 1p34, at reduced amino acid sequence level and hence we designated as CSMD3 [4].
• RT-PCR and EST data indicate that CSMD1 is also expressed in those organs,making this gene a candidate for a suppressor of multiple types of cancer [5].
• Comparative genomic analysis revealed a conserved family of CSMD genes in the mouse and fugu genomes [4].
• These results suggest that CSMD1 may be an important regulator of complement activation and inflammation in the developing CNS, and that it may also play a role in the context of growth cone function [2].
• Taken together, the cell line data suggest that epigenetic silencing and aberrant splicing rather than point mutations may be contributing to the reduction in CSMD1 expression in squamous cancers [6].

Other interactions of CSMD1

• Cell lines that express little or no CSMD1 RNA exhibit DNA methylation of a specific region of the CpG island surrounding CSMD1's first exon [6].

Analytical, diagnostic and therapeutic context of CSMD1

• Analysis of CSMD1 mRNA expression by in situ hybridization and immunolabeling of neurons indicates that the primary sites of synthesis are the developing CNS and epithelial tissues [2].

References