scholarly journals A chromosomal position effect on gene targeting in human cells

2002 ◽  
Vol 30 (22) ◽  
pp. 4892-4901 ◽  
Author(s):  
R. J. Yanez
Keyword(s):  
Gene Targeting ◽  
Position Effect ◽  
Human Cells ◽  
Chromosomal Position ◽  
Chromosomal Position Effect

α-Thalassemia resulting from a negative chromosomal position effect

Blood ◽  
2000 ◽  
Vol 96 (3) ◽  
pp. 800-807
Author(s):  
Virginia M. Barbour ◽  
Cristina Tufarelli ◽  
Jacqueline A. Sharpe ◽  
Zoe E. Smith ◽  
Helena Ayyub ◽  
...  
Keyword(s):  
Cpg Island ◽  
Regulatory Element ◽  
Globin Gene ◽  
Position Effect ◽  
Single Family ◽  
Structural Genes ◽  
Chromosomal Position ◽  
Chromosomal Position Effect ◽  
Globin Promoter ◽  
Globin Gene Expression

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.

scholarly journals Expression of a foreign gene in a line of transgenic mice is modulated by a chromosomal position effect.

1990 ◽  
Vol 10 (3) ◽  
pp. 1192-1198 ◽  
Author(s):  
R al-Shawi ◽  
J Kinnaird ◽  
J Burke ◽  
J O Bishop
Keyword(s):  
Transgenic Mice ◽  
Position Effect ◽  
Insertion Site ◽  
Foreign Gene ◽  
Aberrant Expression ◽  
Transgenic Mouse Line ◽  
Chromosomal Position ◽  
Multiple Copies ◽  
Chromosomal Position Effect ◽  
Or Gene

Unusual aberrant expression of a foreign gene in a particular transgenic mouse line is often attributed to chromosomal position effect, although proof of this is lacking. An alternative explanation is that expression has been modified by the arrangement of multiple copies of the foreign gene at the insertion site or by mutation or gene rearrangement. We have distinguished between these explanations in the case of one particular transgenic line by recovering the aberrantly expressed foreign DNA and reintroducing it into the mouse genome to produce secondary transgenic mice. The expression pattern of the gene in the secondary transgenic mice was normal, showing that this case of aberrant expression is due to a chromosomal position effect.

α-Thalassemia resulting from a negative chromosomal position effect

Blood ◽  
2000 ◽  
Vol 96 (3) ◽  
pp. 800-807 ◽  
Author(s):  
Virginia M. Barbour ◽  
Cristina Tufarelli ◽  
Jacqueline A. Sharpe ◽  
Zoe E. Smith ◽  
Helena Ayyub ◽  
...  
Keyword(s):  
Cpg Island ◽  
Regulatory Element ◽  
Globin Gene ◽  
Position Effect ◽  
Single Family ◽  
Structural Genes ◽  
Chromosomal Position ◽  
Chromosomal Position Effect ◽  
Globin Promoter ◽  
Globin Gene Expression

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.

scholarly journals Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Rita Genesio ◽  
Angela Mormile ◽  
Maria Rosaria Licenziati ◽  
Daniele De Brasi ◽  
Graziella Leone ◽  
...  
Keyword(s):  
Short Stature ◽  
Position Effect ◽  
Primary Ovarian Insufficiency ◽  
Ovarian Insufficiency ◽  
Chromosomal Position ◽  
Chromosomal Position Effect

Chromosomal Position Effect and Aging

2010 ◽  
pp. 151-175
Author(s):  
Eric Gilson ◽  
Frédérique Magdinier
Keyword(s):  
Position Effect ◽  
Chromosomal Position ◽  
Chromosomal Position Effect

Expression of a foreign gene in a line of transgenic mice is modulated by a chromosomal position effect

1990 ◽  
Vol 10 (3) ◽  
pp. 1192-1198
Author(s):  
R al-Shawi ◽  
J Kinnaird ◽  
J Burke ◽  
J O Bishop
Keyword(s):  
Transgenic Mice ◽  
Position Effect ◽  
Insertion Site ◽  
Foreign Gene ◽  
Aberrant Expression ◽  
Transgenic Mouse Line ◽  
Chromosomal Position ◽  
Multiple Copies ◽  
Chromosomal Position Effect ◽  
Or Gene

Unusual aberrant expression of a foreign gene in a particular transgenic mouse line is often attributed to chromosomal position effect, although proof of this is lacking. An alternative explanation is that expression has been modified by the arrangement of multiple copies of the foreign gene at the insertion site or by mutation or gene rearrangement. We have distinguished between these explanations in the case of one particular transgenic line by recovering the aberrantly expressed foreign DNA and reintroducing it into the mouse genome to produce secondary transgenic mice. The expression pattern of the gene in the secondary transgenic mice was normal, showing that this case of aberrant expression is due to a chromosomal position effect.

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