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Published on: October 12, 2017
Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex.
Glenda M Beaman1, Adrian S Woolf2, Filipa M Lopes3
1Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Genetic analysis refined the 22q11.2 locus linked to bladder exstrophy-epispadias complex (BEEC). Eight genes within this locus are expressed in developing and mature human bladders, suggesting altered gene dosage may contribute to BEEC.
Area of Science:
- Genetics
- Developmental Biology
- Urology
Background:
- Bladder exstrophy-epispadias complex (BEEC) is a congenital condition affecting the lower urinary tract.
- Genetic factors, including 22q11.2 microduplications, are implicated in BEEC pathogenesis.
- Approximately 3% of BEEC cases involve 22q11.2 microduplications.
Purpose of the Study:
- To refine the critical 22q11.2 locus associated with BEEC.
- To investigate the expression of genes within the refined locus in human bladders.
- To determine if duplications of individual genes in this locus are associated with BEEC.
Main Methods:
- DNA analysis to identify and refine a 314 kb duplication at 22q11.2.
- Gene expression analysis of eight protein-coding genes in developing and mature human bladders.
- Copy number analysis in 115 BEEC patients without whole locus duplications.
Main Results:
- A maternally inherited 314 kb duplication at 22q11.2 (chr22:21,147,293-21,461,017) was identified and refined.
- All eight protein-coding genes within the refined locus are expressed in human bladders during development and adulthood.
- No duplications of individual genes within the locus were found in BEEC patients lacking whole locus duplications.
Conclusions:
- The 22q11.2 locus associated with BEEC has been refined.
- The identified genes are expressed in human bladders, but the exact mechanism linking 22q11.2 duplication to BEEC susceptibility requires further investigation.
- Altered dosage of multiple genes within the 22q11.2 locus may play a role in BEEC etiology.
