Role of Abnormal Copy-Number Variations, Enhancer Sequences in Genetic Diseases

The interrelationship between chromosomal rearrangements or deletions with the consequences of a pathological condition is a very complex. Non-coding DNA sequences are highly conserved and play an important role in gene regulation. These have been shown to act as positive or negative enhancers in experimental models. Recently, genomic alterations in the enhancer structures (deletions/duplications) have been found to be responsible for developmental disorders. Examples include sonic hedgehog (SHH) limb-enhancer point mutations resulting in preaxial polydactyly, etc. We have developed a new version of Agilent 4x180K CGH + SNP chip in collaboration with Dr. Vincenzo Nigro, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy for the analysis of CNVs covering the enhancer sequences. The long time goal of this project is to determine the correlation between an altered enhancer and with the phenotype of a CNV disorder.

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