文章基本信息

标题：Survey and evaluation of mutations in the human KLF1 transcription unit
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作者：Merlin Nithya Gnanapragasam ; John D. Crispino ; Abdullah M. Ali 等
期刊名称：Scientific Reports
电子版ISSN：2045-2322
出版年度：2018
卷号：8
期号：1
页码：6587
DOI：10.1038/s41598-018-24962-3
语种：English
出版社：Springer Nature
摘要：Erythroid Krüppel-like Factor (EKLF/KLF1) is an erythroid-enriched transcription factor that plays a global role in all aspects of erythropoiesis, including cell cycle control and differentiation. We queried whether its mutation might play a role in red cell malignancies by genomic sequencing of the KLF1 transcription unit in cell lines, erythroid neoplasms, dysplastic disorders, and leukemia. In addition, we queried published databases from a number of varied sources. In all cases we only found changes in commonly notated SNPs. Our results suggest that if there are mutations in KLF1 associated with erythroid malignancies, they are exceedingly rare.