α-Thalassemia resulting from a negative chromosomal position effect
Virginia M Barbour
1
,
Cristina Tufarelli
1
,
Jacqueline A Sharpe
1
,
Zoe E Smith
1
,
Helena Ayyub
1
,
Cynthia A. Heinlein
1
,
Jacqueline Sloane Stanley
1
,
Karel Indrak
1
,
William G. Wood
1
,
Douglas R. Higgs
1
1
From the MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England, and the Department of Clinical Haematology, Faculty Hospital, IP Pavlova, Olomouc, the Czech Republic.
|
Publication type: Journal Article
Publication date: 2000-08-01
scimago Q1
wos Q1
SJR: 5.823
CiteScore: 23.0
Impact factor: 23.1
ISSN: 00064971, 15280020
Biochemistry
Cell Biology
Immunology
Hematology
Abstract
To date, all of the chromosomal deletions that cause -thalassemia remove the structural genes and/or their regulatory element (HS –40). A unique deletion occurs in a single family that juxtaposes a region that normally lies approximately 18-kilobase downstream of the human cluster, next to a structurally normal -globin gene, and silences its expression. During development, the CpG island associated with the -globin promoter in the rearranged chromosome becomes densely methylated and insensitive to endonucleases, demonstrating that the normal chromatin structure around the -globin gene is perturbed by this mutation and that the gene is inactivated by a negative chromosomal position effect. These findings highlight the importance of the chromosomal environment in regulating globin gene expression.
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Total citations:
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Citations from 2024:
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GOST
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Barbour V. M. et al. α-Thalassemia resulting from a negative chromosomal position effect // Blood. 2000. Vol. 96. No. 3. pp. 800-807.
GOST all authors (up to 50)
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Barbour V. M., Tufarelli C., Sharpe J. A., Smith Z. E., Ayyub H., Heinlein C. A., Sloane Stanley J., Indrak K., Wood W. G., Higgs D. R. α-Thalassemia resulting from a negative chromosomal position effect // Blood. 2000. Vol. 96. No. 3. pp. 800-807.
Cite this
RIS
Copy
TY - JOUR
DO - 10.1182/blood.v96.3.800
UR - https://doi.org/10.1182/blood.v96.3.800
TI - α-Thalassemia resulting from a negative chromosomal position effect
T2 - Blood
AU - Barbour, Virginia M
AU - Tufarelli, Cristina
AU - Sharpe, Jacqueline A
AU - Smith, Zoe E
AU - Ayyub, Helena
AU - Heinlein, Cynthia A.
AU - Sloane Stanley, Jacqueline
AU - Indrak, Karel
AU - Wood, William G.
AU - Higgs, Douglas R.
PY - 2000
DA - 2000/08/01
PB - American Society of Hematology
SP - 800-807
IS - 3
VL - 96
SN - 0006-4971
SN - 1528-0020
ER -
Cite this
BibTex (up to 50 authors)
Copy
@article{2000_Barbour,
author = {Virginia M Barbour and Cristina Tufarelli and Jacqueline A Sharpe and Zoe E Smith and Helena Ayyub and Cynthia A. Heinlein and Jacqueline Sloane Stanley and Karel Indrak and William G. Wood and Douglas R. Higgs},
title = {α-Thalassemia resulting from a negative chromosomal position effect},
journal = {Blood},
year = {2000},
volume = {96},
publisher = {American Society of Hematology},
month = {aug},
url = {https://doi.org/10.1182/blood.v96.3.800},
number = {3},
pages = {800--807},
doi = {10.1182/blood.v96.3.800}
}
Cite this
MLA
Copy
Barbour, Virginia M., et al. “α-Thalassemia resulting from a negative chromosomal position effect.” Blood, vol. 96, no. 3, Aug. 2000, pp. 800-807. https://doi.org/10.1182/blood.v96.3.800.