title: Breakpoints of the t(11;18)(q21;q21) in mucosa-associated lymphoid tissue (MALT) lymphoma lie within or near the previously undescribed gene MALT1 in chromosome 18.
abstract: Lymphomas arising in mucosa-associated lymphoid tissue (MALT) are indolent B-cell tumors that have a predilection for epithelial sites and often develop in a setting of chronic inflammation or autoimmunity. As many as 50% of low-grade MALT lymphomas contain an (11;18)(q21; q21) chromosomal translocation. Using fluorescence in situ hybridization, we have analyzed the position of recombination within chromosome 18 DNA in three examples of MALT lymphoma bearing this translocation. In all three cases, the breakpoint maps to DNA in BAC b357H2, covering about 150 kb of sequence. A previously undescribed, ubiquitously expressed gene, which we refer to as MALT1, was identified within this sequence and was found to be broken in one case for which we have definitively located the position of recombination between chromosomes 18 and 11. The sequence of this gene indicates the presence of two immunoglobulin-like C2 domains and a region of partial homology to caspases, suggesting a possible role for MALT1 in the regulation of apoptosis.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan
authors.forename: Y
authors.initials: Y
authors.lastname: Yin
authors.forename: A D
authors.initials: AD
authors.lastname: Borowsky
authors.forename: F
authors.initials: F
authors.lastname: Kuo
authors.forename: N
authors.initials: N
authors.lastname: Nourmand
authors.forename: J I
authors.initials: JI
authors.lastname: Koontz
authors.forename: C
authors.initials: C
authors.lastname: Reynolds
authors.forename: L
authors.initials: L
authors.lastname: Soreng
authors.forename: C A
authors.initials: CA
authors.lastname: Griffin
authors.forename: F
authors.initials: F
authors.lastname: Graeme-Cook
authors.forename: N L
authors.initials: NL
authors.lastname: Harris
authors.forename: D
authors.initials: D
authors.lastname: Weisenburger
authors.forename: G S
authors.initials: GS
authors.lastname: Pinkus
authors.forename: J A
authors.initials: JA
authors.lastname: Fletcher
authors.forename: J
authors.initials: J
authors.lastname: Sklar
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D020169:Caspases / Q000235:genetics; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D002887:Chromosomes, Human, Pair 18; D020451:Contig Mapping; D004273:DNA, Neoplasm / Q000032:analysis; D006801:Humans; D007438:Introns / Q000235:genetics; D018442:Lymphoma, B-Cell, Marginal Zone / Q000235:genetics*; D008969:Molecular Sequence Data; D000074884:Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein; D009363:Neoplasm Proteins / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D020169:Caspases; C400109:MALT1 protein, human; D000074884:Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein