Matches in Ghent University Academic Bibliography for { <https://biblio.ugent.be/publication/01JDKVF65XN7G7HYCEPYDFWHWV> ?p ?o. }
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- 01JDKVF65XN7G7HYCEPYDFWHWV classification U.
- 01JDKVF65XN7G7HYCEPYDFWHWV date "2024".
- 01JDKVF65XN7G7HYCEPYDFWHWV language "und".
- 01JDKVF65XN7G7HYCEPYDFWHWV type conference.
- 01JDKVF65XN7G7HYCEPYDFWHWV presentedAt urn:uuid:8e079cb0-df0f-4b5b-b723-0f0b6779b1a6.
- 01JDKVF65XN7G7HYCEPYDFWHWV abstract "The three-dimensional (3D) folding of the genome within the nucleus plays a crucial role in directing tissue-specific gene activation and expression. For example, topologically associating domains (TADs) facilitate communication between cis-regulatory elements (CREs) and their target promoters, by establishing physical proximity and restricting ectopic interactions. Rearrangements of TAD structure due to structural variants (SVs) have also been implicated in disease, including inherited retinal disease (IRD). Considering the specificity of IRD gene expression in the two major components of the human retina, the neural retina and RPE, we hypothesized that this might be partly driven by tissue- and compartment-specific 3D genome structures and that these could be disrupted by SVs in IRD patients. Therefore, we performed a comparative 3D genome analysis between neural retina and RPE/choroid using Hi-C and H3K4me3 HiChIP on adult donor retinas and showed that 56% of 290 known IRD genes displayed differential 3D chromatin interactions. Furthermore, using Hi-C on patient fibroblasts, we determined that a duplication at the ultraconserved IRXB cluster resulted in the formation of a novel TAD (neoTAD) containing IRX5. Yet, comparison to retinal TAD boundaries implied that a different neoTAD would likely be formed in the retina, possibly with distinct effects on gene expression. This compelled us to further assess the utility of 3D genome mapping in clinically accessible tissues for the interpretation of pathogenic SVs in IRD cases. Through a genome-wide comparison between retina and three clinically accessible tissues (lymphoblastoid cells, peripheral blood mononuclear cells and fibroblasts) we have provided an overview of TAD conservation at IRD loci. Given the importance of tissue-specificity for SV interpretation revealed by our previous studies, we recently integrated retina-specific multi-omics data in POSTRE, a computational tool that was developed to predict the pathogenic effect of SVs, therefore extending its usability to retinal diseases. Overall, we have shown that gene regulation at key IRD loci is likely mediated by tissue-specific 3D chromatin interactions. The specificity of these interactions complicates the correct interpretation of pathogenic SVs using clinically accessible tissues from IRD patients. Yet, the availability of retina-specific multi-omics datasets and dedicated computational tools such as POSTRE, make it now possible to predict the retina-specific effect of pathogenic SVs, presenting new opportunities to accelerate the diagnosis of unsolved IRD.".
- 01JDKVF65XN7G7HYCEPYDFWHWV author 09227D4E-F0EE-11E1-A9DE-61C894A0A6B4.
- 01JDKVF65XN7G7HYCEPYDFWHWV author 2F962566-F0EE-11E1-A9DE-61C894A0A6B4.
- 01JDKVF65XN7G7HYCEPYDFWHWV author F50FFF8E-F0ED-11E1-A9DE-61C894A0A6B4.
- 01JDKVF65XN7G7HYCEPYDFWHWV author FB499586-F0ED-11E1-A9DE-61C894A0A6B4.
- 01JDKVF65XN7G7HYCEPYDFWHWV author ded0b34c-790a-11ee-8a17-9efcdce8073d.
- 01JDKVF65XN7G7HYCEPYDFWHWV author urn:uuid:24009e18-642f-4c16-aa4c-e7619d7b0b7f.
- 01JDKVF65XN7G7HYCEPYDFWHWV author urn:uuid:2a5ca911-d5fa-4dc1-97f4-11ae6c809b8b.
- 01JDKVF65XN7G7HYCEPYDFWHWV author urn:uuid:d9b9fd6e-5dca-4919-a570-53b57df3439d.
- 01JDKVF65XN7G7HYCEPYDFWHWV author urn:uuid:dda03c2d-0525-41ca-8c14-09dafef4c36e.
- 01JDKVF65XN7G7HYCEPYDFWHWV author urn:uuid:df5842c9-1aeb-4dc4-8e5c-0218c2e09d01.
- 01JDKVF65XN7G7HYCEPYDFWHWV author urn:uuid:ef5e39ab-999d-4bc9-8a2b-321e4f7ab609.
- 01JDKVF65XN7G7HYCEPYDFWHWV dateCreated "2024-11-26T09:05:05Z".
- 01JDKVF65XN7G7HYCEPYDFWHWV dateModified "2024-12-12T21:13:10Z".
- 01JDKVF65XN7G7HYCEPYDFWHWV name "The retina-specific 3D genome and the impact of structural variation in inherited retinal disease".
- 01JDKVF65XN7G7HYCEPYDFWHWV publisher urn:uuid:c4806e48-ebe0-4429-911d-168a84ba3d50.
- 01JDKVF65XN7G7HYCEPYDFWHWV sameAs LU-01JDKVF65XN7G7HYCEPYDFWHWV.
- 01JDKVF65XN7G7HYCEPYDFWHWV sourceOrganization urn:uuid:dbd015cc-8623-4547-bbb7-af9543d05549.
- 01JDKVF65XN7G7HYCEPYDFWHWV type U.