Genomic Architecture

3q29 deletion syndrome is caused by a structural rearrangement of the genome that results in a deletion of the 3q29 region on chromosome 3. This rearrangement generally occurs in the gametes (egg and sperm) of parents. The child that develops from the gamete in which the rearrangement occurred will have 3q29 deletion syndrome. Unfortunately, the mechanism that causes the rearrangement, and resultant deletion is poorly understood.

Fortunately, we know the mechanism is affected by the relative organization of the DNA sequence surrounding the region: the local genomic architecture. Investigating the genomic architecture and how its features lead to genomic rearrangement will provide a better understanding of the mechanism underlying deletion of the 3q29 region.

In order to study genomic architecture, we need to be able to collect and view the DNA sequence from humans. Whole genome sequencing (determining the complete DNA sequence of a genome) combined with molecular cytogenetics (chromosome structure) techniques makes it possible to visualize the genomic architecture. Thus, with a high-resolution “picture” of the 3q29 region we can comprehensively characterize the genomic architecture surrounding the 3q29 region.

Our goal is to determine shared features of the genomic architecture in individuals with the 3q29 deletion (and their parents) to understand how they result in genomic structural rearrangement. With this knowledge, we can increase our understanding of the mechanism underlying the 3q29 deletion and, subsequently, structural rearrangements in other regions of the genome.