scholarly journals Erratum: A functional AT/G polymorphism in the 5′-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14

2016 ◽  
Vol 18 (1) ◽  
pp. 57-57
Author(s):  
R J Holt ◽  
C Vandiedonck ◽  
S A Willis-Owen ◽  
J C Knight ◽  
W O Cookson ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Untranslated Region ◽  
Chromosome 13Q14

scholarly journals A functional AT/G polymorphism in the 5′-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14

2015 ◽  
Vol 16 (7) ◽  
pp. 488-494 ◽  
Author(s):  
R J Holt ◽  
C Vandiedonck ◽  
S A Willis-Owen ◽  
J C Knight ◽  
W O Cookson ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Untranslated Region ◽  
Immunoglobulin E ◽  
Luciferase Assay ◽  
Luciferase Reporter ◽  
Total Serum ◽  
Transcription Analysis ◽  
Serum Ige ◽  
Severe Stage ◽  
Chromosome 13Q14

Abstract The immunoglobulin E (IgE)-associated locus on human chromosome 13q14 influencing asthma-related traits contains the genes PHF11 and SETDB2. SETDB2 is located in the same linkage disequilibrium region as PHF11 and polymorphisms within SETDB2 have been shown to associate with total serum IgE levels. In this report, we sequenced the 15 exons of SETDB2 and identified a single previously ungenotyped mutation (AT/G, rs386770867) in the 5′-untranslated region of the gene. The polymorphism was found to be significantly associated with serum IgE levels in our asthma cohort (P=0.0012). Electrophoretic mobility shift assays revealed that the transcription factor Ying Yang 1 binds to the AT allele, whereas SRY (Sex determining Region Y) binds to the G allele. Allele-specific transcription analysis (allelotyping) was performed in 35 individuals heterozygous for rs386770867 from a panel of 200 British families ascertained through probands with severe stage 3 asthma. The AT allele was found to be significantly overexpressed in these individuals (P=1.26 × 10−21). A dual-luciferase assay with the pGL3 luciferase reporter gene showed that the AT allele significantly affects transcriptional activities. Our results indicate that the IgE-associated AT/G polymorphism (rs386770867) regulates transcription of SETDB2.

Linkage mapping of the cystathionine ?-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3? untranslated region

1993 ◽  
Vol 90 (5) ◽  
Author(s):  
Dimitrios Avramopoulos ◽  
Tara Cox ◽  
JanP. Kraus ◽  
Aravinda Chakravarti ◽  
StylianosE. Antonarakis
Keyword(s):  
Human Chromosome ◽  
Linkage Mapping ◽  
Untranslated Region ◽  
Dna Polymorphism ◽  
Chromosome 21 ◽  
Human Chromosome 21

DNA Polymorphisms in the 3′ Untranslated Region of Genes on Human Chromosome 21

Genomics ◽  
1993 ◽  
Vol 15 (1) ◽  
pp. 98-102 ◽  
Author(s):  
Dimitrios Avramopoulos ◽  
Aravinda Chakravarti ◽  
Stylianos E. Antonarakis
Keyword(s):  
Human Chromosome ◽  
Untranslated Region ◽  
Chromosome 21 ◽  
Dna Polymorphisms ◽  
Human Chromosome 21

Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region

Genomics ◽  
1992 ◽  
Vol 14 (2) ◽  
pp. 506-507 ◽  
Author(s):  
Dimitrios Avramopoulos ◽  
Tara Cox ◽  
Jillian E. Blaschak ◽  
Aravinda Chakravarti ◽  
Stylianos E. Antonarakis
Keyword(s):  
Human Chromosome ◽  
Linkage Mapping ◽  
Untranslated Region ◽  
Dna Polymorphism ◽  
Chromosome 21 ◽  
Human Chromosome 21 ◽  
Aml1 Gene

Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14

2004 ◽  
Vol 114 (6) ◽  
pp. 562-572 ◽  
Author(s):  
Fen Ze Hu ◽  
Joseph Donfack ◽  
Azad Ahmed ◽  
Richard Dopico ◽  
Sandra Johnson ◽  
...  
Keyword(s):  
Gastroesophageal Reflux ◽  
Human Chromosome ◽  
Fine Mapping ◽  
Chromosome 13Q14

Assignment of a serotonin 5HT-2 receptor gene (HTR2) to human chromosome 13q14–q21 and mouse chromosome 14

Genomics ◽  
1991 ◽  
Vol 9 (3) ◽  
pp. 461-465 ◽  
Author(s):  
Robert S. Sparkes ◽  
Nancy Lan ◽  
Ivana Klisak ◽  
T. Mohandas ◽  
Anh Diep ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Mouse Chromosome ◽  
Receptor Gene ◽  
Chromosome 14 ◽  
Chromosome 13Q14

Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region

Genomics ◽  
1992 ◽  
Vol 13 (2) ◽  
pp. 447-448 ◽  
Author(s):  
Dimitrios Avramopoulos ◽  
Tara Cox ◽  
Gerald L. Forrest ◽  
Aravinda Chakravarti ◽  
Stylianos E. Antonarakis
Keyword(s):  
Human Chromosome ◽  
Linkage Mapping ◽  
Untranslated Region ◽  
Dna Polymorphism ◽  
Carbonyl Reductase ◽  
Chromosome 21 ◽  
Human Chromosome 21
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