Survey and evaluation of mutations in the human KLF1 transcription unit

Merlin Nithya Gnanapragasam; John D. Crispino; Abdullah M. Ali; Rona Weinberg; Ronald Hoffman; Azra Raza; James J. Bieker

doi:10.1038/s41598-018-24962-3

Survey and evaluation of mutations in the human KLF1 transcription unit

Merlin Nithya Gnanapragasam, John D. Crispino, Abdullah M. Ali, Rona Weinberg, Ronald Hoffman, Azra Raza, James J. Bieker^*

^*Corresponding author for this work

Medicine, Hematology Oncology Division

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English (US)
Article number	6587
Journal	Scientific reports
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41598-018-24962-3
State	Published - Dec 1 2018

Funding

This work was supported by PHS grants R21 CA133608 and R01 DK46865 to JJB, and by a Cooley’s Anemia Fellowship to MNG. The Myeloproliferative Disorders Research Consortium Tissue Bank Core C was supported by grant P01 CA108671. We thank Dr John Martignetti for discussion and comments on the manuscript, and Dr Tim Ley for discussion.

ASJC Scopus subject areas

General

Access to Document

10.1038/s41598-018-24962-3

Cite this

@article{62e68421849a4dd7a830c593e12e36a3,

title = "Survey and evaluation of mutations in the human KLF1 transcription unit",

abstract = "Erythroid Kr{\"u}ppel-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.",

author = "Gnanapragasam, {Merlin Nithya} and Crispino, {John D.} and Ali, {Abdullah M.} and Rona Weinberg and Ronald Hoffman and Azra Raza and Bieker, {James J.}",

note = "Funding Information: This work was supported by PHS grants R21 CA133608 and R01 DK46865 to JJB, and by a Cooley{\textquoteright}s Anemia Fellowship to MNG. The Myeloproliferative Disorders Research Consortium Tissue Bank Core C was supported by grant P01 CA108671. We thank Dr John Martignetti for discussion and comments on the manuscript, and Dr Tim Ley for discussion. Publisher Copyright: {\textcopyright} 2018 The Author(s).",

year = "2018",

month = dec,

day = "1",

doi = "10.1038/s41598-018-24962-3",

language = "English (US)",

volume = "8",

journal = "Scientific reports",

issn = "2045-2322",

publisher = "Nature Publishing Group",

number = "1",

}

TY - JOUR

T1 - Survey and evaluation of mutations in the human KLF1 transcription unit

AU - Gnanapragasam, Merlin Nithya

AU - Crispino, John D.

AU - Ali, Abdullah M.

AU - Weinberg, Rona

AU - Hoffman, Ronald

AU - Raza, Azra

AU - Bieker, James J.

N1 - Funding Information: This work was supported by PHS grants R21 CA133608 and R01 DK46865 to JJB, and by a Cooley’s Anemia Fellowship to MNG. The Myeloproliferative Disorders Research Consortium Tissue Bank Core C was supported by grant P01 CA108671. We thank Dr John Martignetti for discussion and comments on the manuscript, and Dr Tim Ley for discussion. Publisher Copyright: © 2018 The Author(s).

PY - 2018/12/1

Y1 - 2018/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85046000558&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85046000558&partnerID=8YFLogxK

U2 - 10.1038/s41598-018-24962-3

DO - 10.1038/s41598-018-24962-3

M3 - Article

C2 - 29700354

AN - SCOPUS:85046000558

SN - 2045-2322

VL - 8

JO - Scientific reports

JF - Scientific reports

IS - 1

M1 - 6587

ER -

Survey and evaluation of mutations in the human KLF1 transcription unit

Abstract

Funding

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this