¹Institut de Génétique Humaine, CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier, France

²Ludwig Institute for Cancer Research, Brussels Branch, 74 av Hippocrate, B1200 Brussels, Belgium

³MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, UK

Correspondence to: A De Sario, Institut de Génétique Humaine, CNRS UPR 1142, 141 rue de la Cardonille, 34396 Montpellier, France.Tel +334 99 61 99 77; Fax: +334 99 61 99 01; E-mail: desario@infobiogen.fr

A first BAGE (B melanoma antigen) gene, BAGE1, was identified because it encodes a human tumour antigen recognised by a cytolytic T lymphocyte. Here, we characterised five new BAGE genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 and nine BAGE gene fragments mapping to the juxtacentromeric regions of chromosomes 9, 13, 18, and 21. Genes and gene fragments share extensive regions of 90-99% nucleotide identity. We analysed the expression of BAGE genes on 215 tumours of various histological types and on nine normal tissues. Similar to BAGE1, the new BAGE genes are expressed in melanomas, bladder and lung carcinomas and in a few tumours of other histological types. All the normal tissues were negative, with the exception of testis. Our results show that human juxtacentromeric regions harbour genes, which are transcribed and translated, in addition to gene fragments that are generally not expressed. We suggest that the pattern of expression restricted to cancer/testis is a feature of the few genes mapping to juxtacentromeric regions.

European Journal of Human Genetics (2002) 10, 833-840. doi:10.1038/sj.ejhg.5200891

BAGE; chromosome 21; chromosome 13; juxtacentromeric regions; gene family; gene fragment; tumour