Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

Abstract Background Mutations in the transcription factor, KLF1, are common within certain populations of the world. Heterozygous missense mutations in KLF1 mostly lead to benign phenotypes, but a heterozygous mutation in a DNA-binding residue (E325K in human) results in severe Congenital Dyserythro...

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Bibliographic Details
Main Authors: Melissa D. Ilsley, Stephen Huang, Graham W. Magor, Michael J. Landsberg, Kevin R. Gillinder, Andrew C. Perkins
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Genomics
Subjects:
CDA
Online Access:http://link.springer.com/article/10.1186/s12864-019-5805-z