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Survey and evaluation of mutations in the human KLF1 transcription unit.


ABSTRACT: 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.

SUBMITTER: Gnanapragasam MN 

PROVIDER: S-EPMC5920080 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Survey and evaluation of mutations in the human KLF1 transcription unit.

Gnanapragasam Merlin Nithya MN   Crispino John D JD   Ali Abdullah M AM   Weinberg Rona R   Hoffman Ronald R   Raza Azra A   Bieker James J JJ  

Scientific reports 20180426 1


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  ...[more]

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