Hi,
I wonder whether there are some known and widely discussed cases of human disorders caused by SNP (or set of SNPs) in one case and by large-scale genomic rearrangements in other.
How these complex cases are treated in medical practice? Are there any tests available covering different sources of such disorders?
I theorise that such cases might arise from interruption of TAD boundary in chromatin (either CTCF binding site mutation or some deletion/sophisticated rearrangement of TAD boundary).
But I'm rather interested in particular cases known for medical practice. Any ideas?
Dear Aleksandra
Please, read the article in the following link, I hope will be useful for you.
http://moult.ibbr.umd.edu/pdfs/SNPsproteinstructureanddisease.pdf
Good Luck
Dear Khalid,
Thank you! I'm rather interested in large rearrangements of DNA causing genetic disorders, e.g. inversion or deletion of several Mbp, or at least several tens of Kbp.
Rearrangements that influence the structure of particular protein are of great importance, but my question is not dedicated to them.
Here is an example of what I'm looking for: Article Disruptions of Topological Chromatin Domains Cause Pathogeni...
Hi Aleksandra
try to look at this webinar, you should hear what you're looking for:
(http://www.sciencemag.org/custom-publishing/webinars/cnvs-vs-snps-understanding-human-structural-variation-disease).
fred
Dear Fred,
Thank you! This is very educational webinar providing good review of the beginning of structural variations analysis in human diseases.
Actually, I've found an answer in this recent review: Article Regulation of disease-associated gene expression in the 3D genome
An example of widespread genetic diseases for which both SNPs and CNVs mechanisms are well described is thalassemia.
Thank you for your help, it inspired a lot.
Best regards,
Aleksandra
Dear Aleksandra,
Here is the paper, summarizing data on several lactic acidosis patients, possessing mutations in PDHA1 and PDHX genes.
Article Molecular characterization of 82 patients with pyruvate dehy...
Most mutations there include single-nucleotide changes or short deletions, however some are deletions of several Mbp affecting several genes.
Hope, the paper will complement your previous findings.
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