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  1. Sep 2023
    1. (A) Strategy used to identify genes withaltered 3D chromatin organization as aresult of species-specific rearrangements.

      Hypothesis: Scientists predicted that rearrangements in 3D chromatin organization can alter regulatory domains and affect gene expression. Methods: In genome comparisons, synteny breaks can identify rearrangements. Mole genomes were compared with full-chromosome assemblies from human, mouse, and shrew. These were used for comparison as they are the closest taxonomical outgroup with normal ovarian development. These comparisons were performed to identify rearrangements specific to moles. Moreover, Hi-C domain predictions were used to identify genes located in topologically associating domains (TAD) that were affected by a synteny break. They then filtered the located genes according to Gene Ontology (GO terms). Results: They found 286 synteny breaks, and 2,595 genes with altered 3D chromatin organization. Conclusion: After filtering candidates based on GO terms, the list was restricted to 39 genes that were possibly effected. Concept from Ainsworth 2015: A made a connection between female mole's genitalia and the DSD called, congenital adrenal hyperplasia, which causes the body to produce excessive amounts of male sex hormones. If you have this condition and are XX, you are born with an enlarged clitoris and fused labia that resemble a scrotum. In the study they compared the mole genome with humans, so I find this interesting. Concept from Ridnik 2021: In this paper, TAD's are described in a bit more detail, as well as the Hi-C domain. Hi-C is a genome-wide chromosome conformation capture technique. Investigation of Hi-C interaction maps reveled that genome is further organized into megabase-scale units. These are called TADs. TADs there are regulatory elements (enhancers) and they are predicted to interact with their promoters by forming a loop to control gene expression. In the Real paper, they use both Hi-C and TAD predictions for their 3D chromatin organization.