Citations to this article

The proximal element of the beta globin locus control region is not functionally required in vivo.
A E Kulozik, … , E Kohne, E Kleihauer
A E Kulozik, … , E Kohne, E Kleihauer
Published June 1, 1991
Citation Information: J Clin Invest. 1991;87(6):2142-2146. https://doi.org/10.1172/JCI115246.
View: Text | PDF
Research Article

The proximal element of the beta globin locus control region is not functionally required in vivo.

Abstract

In addition to local sequence elements the regulation of the high-level, development- and tissue-specific expression of the human beta globin gene cluster appears to require distant regulatory sequences which have been termed locus control region. In the chromatin of erythroid cells the locus control region is characterized by four DNaseI hypersensitive sites that are located 6-18 kb 5' of the epsilon globin gene. The definition of the sequences minimally required for locus control region activity is likely to further the understanding of its physiology and will be of interest for the development of somatic gene therapy strategies of the hemoglobinopathies. We present here the analysis of a family with a 3,030-bp deletion of sequences upstream of the epsilon globin gene including the most 3' locus control region element and cosegregating beta(0) thalassemia. The deletion is linked in cis to a structurally and functionally normal beta globin gene. The proximal element of the locus control region does not therefore appear to be necessary for beta globin gene activity in vivo.

Authors

A E Kulozik, S Bail, A Bellan-Koch, C R Bartram, E Kohne, E Kleihauer

×

Total citations by year

Year: 2022 2015 2014 2011 2010 2009 2008 2007 2005 2003 2002 2001 2000 1999 1998 1997 1996 1993 1992 Total
Citations: 1 1 2 1 1 1 1 1 1 1 2 2 1 1 2 1 3 3 1 27
Citation information

Citations to this article (27)

Title and authors Publication Year
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.
Minaidou A, Tamana S, Stephanou C, Xenophontos M, Harteveld CL, Bento C, Kleanthous M, Kountouris P 		International journal of molecular sciences 2022
Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region
A Amid, M Cheong, B Eng, M Hanna, BA Hohenadel, LM Nakamura, L Walker, I Odame, M Kirby-Allen, JS Waye 		Haematologica 2015
Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype
JM Nieto, A Villegas, FD la Fuente-Gonzalo, FA González, P Ropero 		Journal of Human Genetics 2014
Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype
JM Nieto, A Villegas, FD Fuente-Gonzalo, FA González, P Ropero 		Journal of Human Genetics 2014
A Novel Deletion/Insertion Caused by a Replication Error in the β-Globin Gene Locus Control Region
P Joly, P Lacan, C Garcia, R Meley, C Pondarré, A Francina 		Hemoglobin 2011
DNase I Hypersensitivity and ϵ-Globin Transcriptional Enhancement Are Separable in Locus Control Region (LCR) HS1 Mutant Human β-Globin YAC Transgenic Mice
M Shimotsuma, E Okamura, H Matsuzaki, A Fukamizu, K Tanimoto 		The Journal of biological chemistry 2010
Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients
SC Koenig, E Becirevic, MS Hellberg, MY Li, JC So, JS Hankins, RE Ware, L McMahon, MH Steinberg, HY Luo, DH Chui 		American Journal of Hematology 2009
Current status of globin gene therapy for the treatment of β-thalassaemia
L Lisowski, M Sadelain 		British Journal of Haematology 2008
Deletion of the human beta-globin LCR 5'HS4 or 5'HS1 differentially affects beta-like globin gene expression in beta-YAC transgenic mice
H Fedosyuk, KR Peterson 		Blood cells, molecules & diseases 2007
Synergistic and Additive Properties of the Beta-Globin Locus Control Region (LCR) Revealed by 5′HS3 Deletion Mutations: Implication for LCR Chromatin Architecture
X Fang, J Sun, P Xiang, M Yu, PA Navas, KR Peterson, G Stamatoyannopoulos, Q Li 		Molecular and cellular biology 2005
Effects of human locus control region elements HS2 and HS3 on human β-globin gene expression in transgenic mouse
CP Jia, SZ Huang, JB Yan, YP Xiao, ZR Ren, YT Zeng 		Blood Cells, Molecules, and Diseases 2003
Molecular aspects of embryonic hemoglobin function
T Brittain 		Molecular Aspects of Medicine 2002
Definition of Transcriptional Promoters in the Human β Globin Locus Control Region
SJ Routledge, NJ Proudfoot 		Journal of Molecular Biology 2002
Targeted deletion of 5′HS1 and 5′HS4 of the β-globin locus control region reveals additive activity of the DNaseI hypersensitive sites
MA Bender, JN Roach, J Halow, J Close, R Alami, EE Bouhassira, M Groudine, SN Fiering 		Blood 2001
Sequences Flanking Hypersensitive Sites of the β-Globin Locus Control Region Are Required for Synergistic Enhancement
JM Molete, H Petrykowska, EE Bouhassira, YQ Feng, W Miller, RC Hardison 		Molecular and cellular biology 2001
Gene regulation and deregulation: a β globin perspective
PJ Ho, SL Thein 		Blood Reviews 2000
The regulation of β globin gene expression and β thalassemia
PJ Ho 		Pathology 1999
3 β-Thalassaemia
SL Thein 		Baillière's Clinical Haematology 1998
The Locus Control Region Is Necessary for Gene Expression in the Human β-Globin Locus but Not the Maintenance of an Open Chromatin Structure in Erythroid Cells
A Reik, A Telling, G Zitnik, D Cimbora, E Epner, M Groudine 		Molecular and cellular biology 1998
Locus control regions of mammalian β-globin gene clusters: combining phylogenetic analyses and experimental results to gain functional insights
R Hardison, JL Slightom, DL Gumucio, M Goodman, N Stojanovic, W Miller 		Gene 1997
Sequences within and flanking hypersensitive sites 3 and 2 of the beta-globin locus control region required for synergistic versus additive interaction with the epsilon-globin gene promoter
JD Jackson, W Miller, RC Hardison 		Nucleic Acids Research 1996
Analysis of mice containing a targeted deletion of beta-globin locus control region 5' hypersensitive site 3
BA Hug, RL Wesselschmidt, S Fiering, MA Bender, E Epner, M Groudine, TJ Ley 		Molecular and cellular biology 1996
Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription
E Milot, J Strouboulis, T Trimborn, M Wijgerde, E de Boer, A Langeveld, K Tan-Un, W Vergeer, N Yannoutsos, F Grosveld, P Fraser 		Cell 1996
Developmental regulation of the human embryonic beta-like globin gene is mediated by synergistic interactions among multiple tissue- and stage-specific elements
WL Trepicchio, MA Dyer, MH Baron 		Molecular and cellular biology 1993
Developmental regulation of human β-globin gene transcription: a switch of loyalties?
JD Engel 		Trends in Genetics 1993
6 β-Thalassaemia
SL Thein 		Baillière's Clinical Haematology 1993
β-thalassaemia: Molecular pathogenesis and clinical variability
AE Kulozik 		European Journal of Pediatrics 1992

Advertisement