My question is on the way of expression of allele specific copy number variation, e.g. individual 1 has a CNV as 3, 3, on each allele, with 6 copies; and individual 2 has 1, 5, on either allele, also 6 copies. If both patterns will express exactly the same way Solly based on gene dosage? or there is a different scenario?
This question is very interesting. The following is my explanation. However, I will be very happy to be corrected.
In terms of gene dosage, both individuals would have the same total number of copies of the gene (6 copies), which can influence gene expression levels. However, the expression of the gene might differ due to allele-specific effects. Allele-specific copy number variation can lead to differences in gene expression levels between alleles, potentially resulting in different phenotypic outcomes or disease susceptibilities. Therefore, while the total gene dosage may be the same, the allele-specific patterns could lead to different expression profiles and phenotypic consequences.
An example scenario could be, say the allele with fewer copies (allele 1 in individual 2) contains a regulatory sequence that enhances gene expression, while the allele with more copies (allele 2 in individual 2) contains a regulatory sequence that suppresses gene expression.
In this case, individual 2 might have higher expression levels of Gene X compared to individual 1 due to the presence of the enhancing regulatory sequence on the allele with fewer copies. This could result in different disease outcomes or phenotypic presentations despite both individuals having the same total gene dosage.
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