The structure of the human ALL-1/MLL/HRX gene
| Autor: | I. Nilson, Georg H. Fey, G. Siegler, Rolf Marschalek, R Greim, Jörn D. Beck, Klaus Löchner, Johann Greil |
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| Rok vydání: | 1998 |
| Předmět: |
Cancer Research
Molecular Sequence Data Restriction Mapping Chromosomal translocation Biology Translocation Genetic Malignant transformation Exon Restriction map Proto-Oncogenes Humans Gene Repetitive Sequences Nucleic Acid Genetics Leukemia Base Sequence Chromosomes Human Pair 11 Intron Chromosome Hematology Exons Histone-Lysine N-Methyltransferase Oncogenes Introns Neoplasm Proteins DNA-Binding Proteins Open reading frame Oncology Sequence Alignment Myeloid-Lymphoid Leukemia Protein Transcription Factors |
| Zdroj: | Europe PubMed Central |
| ISSN: | 1042-8194 |
| Popis: | The human ALL-1/MLL/HRX gene on chromosome 11q23 is the site of many locally clustered chromosomal alterations associated with several types of acute leukemias, including deletions. partial duplications and reciprocal translocations. Structurally variant proteins derived from an altered ALL-1 gene presumably make essential contributions to the malignant transformation of hematopoietic progenitor cells. The ALL-1 gene is spread over approximately 92 kb and consists of at least 37 exons. An exon/intron map including the position of the 3'-end of the gene and a detailed restriction map were produced and an updated map is presented. Data from other laboratories were incorporated where compatible. Exon/intron boundaries were sequenced and an intron-phase analysis was performed. The results are expected to contribute to a better understanding of those structural alterations of the gene that conserve the open reading frame and produce presumably oncogenic variants of the ALL-1 protein. They will also facilitate the rapid molecular diagnosis of structural alterations of this gene and the choice of therapeutic options. Mechanisms that may potentially account for the striking clustering of the translocation breakpoints in the breakpoint cluster region of the gene are discussed. |
| Databáze: | OpenAIRE |
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