Impact of aberrant branchpoint selection in Myelodysplasia and Chronic Lymphocytic Leukaemia.

异常分支点选择对骨髓增生异常和慢性淋巴细胞白血病的影响。

• 批准号: nhmrc : 1062606
• 负责人: A/Pr Timothy Mercer
• 金额: $ 40.36万
• 依托单位: Garvan Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/impact-aberrant-branchpoint-lymphocytic-leukaemia/455007
• 关键词: Impact; aberrant; branchpoint; selection; Myelodysplasia

Most human genes are spliced together from smaller exon parts. CIA Mercer has found that if splicing proceeds incorrectly backwards, small circular RNAs and incomplete genes are built. The splicing machinery responsible for this process is recurrently mutated in blood disorders, notably Myelodysplasia and Chronic Lymphocytic Leukaemia. We propose that these mutations cause backwards splicing of key genes responsible for these disorders, representing a major new pathway to cancer.

大多数人类基因是由较小的外显子部分拼接而成的。中央情报局美世发现，如果反向剪接不正确，就会形成小的环状RNA和不完整的基因。负责这一过程的剪接机制在血液疾病中反复突变，特别是骨髓增生异常和慢性淋巴细胞白血病。我们认为，这些突变导致负责这些疾病的关键基因的反向剪接，代表了癌症的一个主要新途径。