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

大多数人类基因是由较小的外显子部分拼接而成的。CIA Mercer发现，如果错误地向后拼接，就会构建出小的环状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，特别是骨髓发育不良症和慢性淋巴细胞白血病。我们认为，这些突变导致导致这些疾病的关键基因的向后剪接，代表了一条通往癌症的主要新途径。

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.