Sequences at the direct breakpoint junctions of the MALT1-JH fusion products
| Cases (organ)* . | Processing of ends† . | MALT1 sequence (18q21)‡ . | De novo nucleotide additions (D regions) . | JH sequence (14q32)‡ . | JH . | Processing of ends . |
|---|---|---|---|---|---|---|
| Germline | 27462TTTACTGGAATCCTGCCTTTTAATTTAAATTCAAC | ACTACTTTGACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | |||
| Germline | 27541CAAAGCGTTGCTTATGCAACCTCTCGTGTGCATAC | ACAACTGGTTCGACCCCTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH5 | |||
| Case 1 (conjunctiva) | +8 bp | 27541CAAAGCGTTGCTTATGCAACCTCTCGTGTGCAT | CCTAAGGGTTCGTGGGGCCGGGAGCCCAGGTC | GACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | −8 bp |
| Case 2 (lung) | −4 bp | 27541CAAAGCGTTGCTTATGCAACCTtTCG | ACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | −9 bp | |
| Case 3 (orbit) | Unknown | 27541CAAtGCGTTGCTTATGCAACCTCTC | AGTCGGTCTCGGCGCGCGA | TTGACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | −6 bp |
| Case 4 (skin) | Unknown | 27541CAAAGCGTTGCTTATGCAACCTCT | ATGGTTTTGGC | CTGGTTCGACCCCTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH5 | −4 bp |
| Case 5 (skin) | Unknown | 27462TTTACTGGAATCCTGCCTTTTAATTT | CAGCGCGGCCGCGGCCCAGCCGGCCTATTA | AACCCaGGTCACCGTCTCCTCAGGT | JH5 | −28 bp |
| Case 6 (orbit) | Unknown | 27541CAAAGCGTTGCTTATGCA | GAGT | AACTgGGTTCGACCCCTGGGGCCAGGGAACCCTGGTCACCGTCTtCTCAGGT | JH5 | −2 bp |
| Cases (organ)* . | Processing of ends† . | MALT1 sequence (18q21)‡ . | De novo nucleotide additions (D regions) . | JH sequence (14q32)‡ . | JH . | Processing of ends . |
|---|---|---|---|---|---|---|
| Germline | 27462TTTACTGGAATCCTGCCTTTTAATTTAAATTCAAC | ACTACTTTGACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | |||
| Germline | 27541CAAAGCGTTGCTTATGCAACCTCTCGTGTGCATAC | ACAACTGGTTCGACCCCTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH5 | |||
| Case 1 (conjunctiva) | +8 bp | 27541CAAAGCGTTGCTTATGCAACCTCTCGTGTGCAT | CCTAAGGGTTCGTGGGGCCGGGAGCCCAGGTC | GACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | −8 bp |
| Case 2 (lung) | −4 bp | 27541CAAAGCGTTGCTTATGCAACCTtTCG | ACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | −9 bp | |
| Case 3 (orbit) | Unknown | 27541CAAtGCGTTGCTTATGCAACCTCTC | AGTCGGTCTCGGCGCGCGA | TTGACTACTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH4 | −6 bp |
| Case 4 (skin) | Unknown | 27541CAAAGCGTTGCTTATGCAACCTCT | ATGGTTTTGGC | CTGGTTCGACCCCTGGGGCCAGGGAACCCTGGTCACCGTCTCCTCAGGT | JH5 | −4 bp |
| Case 5 (skin) | Unknown | 27462TTTACTGGAATCCTGCCTTTTAATTT | CAGCGCGGCCGCGGCCCAGCCGGCCTATTA | AACCCaGGTCACCGTCTCCTCAGGT | JH5 | −28 bp |
| Case 6 (orbit) | Unknown | 27541CAAAGCGTTGCTTATGCA | GAGT | AACTgGGTTCGACCCCTGGGGCCAGGGAACCCTGGTCACCGTCTtCTCAGGT | JH5 | −2 bp |
Case 6 corresponds to case 1 of the study of Sánchez-Izquierdo et al.7
Status of coding ends at IGH locus or MALT1 end processing (−bp indicates deletion; +bp, addition).
Numbers in superscript in the MALT1 sequence indicate the position of the first nucleotide in BAC clone RP11-126O1 according to GenBank sequence AC104971. Mismatches to the germline are in lowercase letters. Point mutations are underlined and nucleotide insertions are specified above the line. These sequences are deposited at GenBank, accession nos. GQ406056, GQ406058, GQ406060, GQ406061, and GQ406062.