Publications by authors named "Nicholas Haghani"
Article Synopsis
- - The study investigates the role of duplicated genes in human brain evolution, focusing on genes that are uniquely expanded in humans and their potential contributions to neurological traits like language and cognition.
- - By analyzing a complete human genome and using advanced methods, the researchers identified 213 duplicated gene families and narrowed it down to 362 paralogs that are highly expressed in the brain and associated with autism-related genes.
- - The research also utilized zebrafish models to "humanize" certain genes, revealing key insights into their roles in brain development, such as their impact on brain size and synaptic signaling.
The expansion of the human family, resulting in a human-specific paralog likely contributed to altered evolutionary brain features. The introduction of in mouse models is associated with changes in cortical neuronal migration, axon guidance, synaptogenesis, and sensory-task performance. Truncated SRGAP2C heterodimerizes with the full-length ancestral gene product SRGAP2A and antagonizes its functions.
View Article and Find Full Text PDFHigher-order chromatin structure is important for the regulation of genes by distal regulatory sequences. Structural variants (SVs) that alter three-dimensional (3D) genome organization can lead to enhancer-promoter rewiring and human disease, particularly in the context of cancer. However, only a small minority of SVs are associated with altered gene expression, and it remains unclear why certain SVs lead to changes in distal gene expression and others do not.
View Article and Find Full Text PDF