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

• Research unit: EU RFP
• Project number: 95.0215-1

Key words (English)

Human chromosome 1q21; gene mapping; gene regulation; expression patterns; genetic diseases; cancer

Alternative project number (English)

EU project number: BMH4CT960319

Research programs (English)

EU-programme: 4. Frame Research Programme - 4.2 Agriculture and agroindustry

Short description (English)

See abstract

Further information (English)

Full name of research-institution/enterprise:
Kinderspital Zürich Eleonorenstiftung / Universitäts-Kinderklinik

Abteilung für Klinische Chemie und Biochemie

Partners and International Organizations (English)

DR. DIETMAR MISCHKE, D-BERLIN; DR. CLAUDE BACKENDORF, NL-LEIDEN; DR. PHILIPPE DJIAN, F-MEUDON; DR. ANNE FORUS, NO-OSLO; DR. DANIEL HOHL, CH-LAUSANNE; DR. DEAN NIZETIC, UK-LONDON; DR. IOANNIS RAGOUSSIS, UK-LONDON; DR. FIONA WATT, UK-LONDON

Abstract (English)

The project has focused on the chromosomal organisation of genes located in region 1q21 of human chromosome 1, their expression patterns and functional, structural, and evolutionary relationships, as well as their contribution to human diseases and cancer.
Hallmarks of the project are:
a) Identification and mapping of known and approximately 50 novel or previously unassigned genes in region 1q21 increasing the gene density of this region considerably,
b) Construction of an integrated physical and transcriptional map of the genomic DNA in 1q21 in the form of a single 2.5 Mbp long 'sequence-ready' bacterial clone contig encompassing all known EDC genes. The contig is presently being sequenced at the Sanger Center.
c) Studies on the expression and regulation of expression of 1q21 genes (particularly S100, repetin, SPRRs, involucrin) in various normal and disease tissues and transgenic mice including the identification of regulatory elements and transcription factors determining tissue-, developmental- and differentiation-specific expression
d) Detection and characterisation of 1q21 gene amplification in sarcomas and cloning of three novel candidate target genes.
e) Creation of tools that will invariably foster future investigations, such as an array of fragmented YACs, a gridded keratinocyte cDNA library and antibodies directed against various 1q21 proteins.

References in databases (English)

Swiss Database: Euro-DB of the
State Secretariat for Education and Research
Hallwylstrasse 4
CH-3003 Berne, Switzerland
Tel. [phone]
Swiss Project-Number: 95.0215-1