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J Pediatr Genet 2017; 06(03): 169-173
DOI: 10.1055/s-0037-1602387
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Role of the LF-SINE–Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

Rong Zhang
1   Institute of Human Genetics, University of Bonn, Bonn, Germany
,
Michael Knapp
2   Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany
,
Franziska Kause
1   Institute of Human Genetics, University of Bonn, Bonn, Germany
,
Heiko Reutter
1   Institute of Human Genetics, University of Bonn, Bonn, Germany
3   Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany
,
Michael Ludwig
4   Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
› Author Affiliations
Further Information

Publication History

14 February 2017

20 March 2017

Publication Date:
21 April 2017 (online)

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Abstract

A genome-wide association study and meta-analysis identified ISL1 as the first genome-wide significant susceptibility gene for classic bladder exstrophy (CBE). A short interspersed repetitive element (SINE), first detected in lobe-finned fishes (LF-SINE), was shown to drive Isl1 expression in embryonic mouse genital eminence. Hence, we assumed this enhancer a conclusive target for mutations associated with CBE formation and analyzed a cohort of 200 CBE patients. Although we identified two enhancer variants in five CBE patients, their clinical significance seems unlikely, implying that sequence variants in the ISL1 LF-SINE enhancer are not frequently associated with CBE.

Keywords

cis-regulatory element - classic bladder exstrophy - enhancer - ISL1 - LF-SINE
 

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