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Integrated analysis of expression and chromosomal organisation of genes localised on human chromosome 1q21: implications for human disease and cancer

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Gene mapping may offer explanations on skin cancer formation

Families of genes residing in region 1q21 of chromosome 1 are most probably responsible for controlling keratinisation, a genetic disorder that causes the physical and chemical resistance of the human epidermis to vanish. A multidisciplinary effort has succeeded in mapping the genes of this region, corresponding to the terminal differentiation of keratinocytes. Pharmacological and skin care industries are among the possible beneficiaries of this research.


Chromosome 1 is the largest human chromosome and, remarkably enough, contains 8% of the entire human genomic information. Region 1q21 of this chromosome exhibits peculiar characteristics. It consists of at least two structurally different families of genes whose co-localisation is a quite rare phenomenon. The DNA segment of this region, termed the Epidermal Differentiation Complex, contains 27 genes, 14 of these genes are responsible for the terminal differentiation of keratinocytes, while the remaining 13 are possibly responsible for the differentiation of epidermis and other tissues. The genes responsible for the epidermis code calcium-binding proteins found to be differentially regulated in human cancer cells. Moreove, both rearrangement and amplification of region 1q21 have been observed in cancerous tumours. The map encompassing all of the 27 genes aims to provide the starting point for a combined European effort towards a better understanding of the potential role these genes play in carcinogenesis. Furthermore, understanding the ways in which these genes regulate human epidermis may eventually lead to new products for the cosmetics and skin care industries.

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