ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus

Amandine Breton; Andria Theodorou; Suleyman Aktuna; Laura Sonzogni; David Darling; Lucas Chan; Stephan Menzel; Peter J. van der Spek; Sigrid M A Swagemakers; Frank Grosveld; Sjaak Philipsen; Swee Lay Thein

doi:10.1111/bjh.14256

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus

Amandine Breton, Andria Theodorou, Suleyman Aktuna, Laura Sonzogni, David Darling, Lucas Chan, Stephan Menzel, Peter J. van der Spek, Sigrid M A Swagemakers, Frank Grosveld, Sjaak Philipsen, Swee Lay Thein^*

^*Corresponding author for this work

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

9 Citations (Scopus)

Abstract

In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.

Original language	English
Journal	British Journal of Haematology
Early online date	19 Jul 2016
DOIs	https://doi.org/10.1111/bjh.14256
Publication status	E-pub ahead of print - 19 Jul 2016

Keywords

ASH1L
Beta-thalassaemia
Trithorax protein

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10.1111/bjh.14256

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Breton, A., Theodorou, A., Aktuna, S., Sonzogni, L., Darling, D., Chan, L., Menzel, S., van der Spek, P. J., Swagemakers, S. M. A., Grosveld, F., Philipsen, S., & Thein, S. L. (2016). ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus. British Journal of Haematology. Advance online publication. https://doi.org/10.1111/bjh.14256

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title = "ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus",

abstract = "In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.",

keywords = "ASH1L, Beta-thalassaemia, Trithorax protein",

author = "Amandine Breton and Andria Theodorou and Suleyman Aktuna and Laura Sonzogni and David Darling and Lucas Chan and Stephan Menzel and {van der Spek}, {Peter J.} and Swagemakers, {Sigrid M A} and Frank Grosveld and Sjaak Philipsen and Thein, {Swee Lay}",

year = "2016",

month = jul,

day = "19",

doi = "10.1111/bjh.14256",

language = "English",

journal = "British Journal of Haematology",

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Breton, A , Theodorou, A , Aktuna, S, Sonzogni, L, Darling, D, Chan, L , Menzel, S, van der Spek, PJ, Swagemakers, SMA, Grosveld, F, Philipsen, S & Thein, SL 2016, 'ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus', British Journal of Haematology. https://doi.org/10.1111/bjh.14256

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus. / Breton, Amandine ; Theodorou, Andria ; Aktuna, Suleyman et al.
In: British Journal of Haematology, 19.07.2016.

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

TY - JOUR

T1 - ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus

AU - Breton, Amandine

AU - Theodorou, Andria

AU - Aktuna, Suleyman

AU - Sonzogni, Laura

AU - Darling, David

AU - Chan, Lucas

AU - Menzel, Stephan

AU - van der Spek, Peter J.

AU - Swagemakers, Sigrid M A

AU - Grosveld, Frank

AU - Philipsen, Sjaak

AU - Thein, Swee Lay

PY - 2016/7/19

Y1 - 2016/7/19

N2 - In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.

AB - In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.

KW - ASH1L

KW - Beta-thalassaemia

KW - Trithorax protein

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SN - 0007-1048

JO - British Journal of Haematology

JF - British Journal of Haematology

ER -

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus

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