The overall goals of the lab are to understand how repetitive genomic features influence phenotypes. We are currently interested in (epi)genetic variation within the Ribosomal DNA that codes for the rRNA components of the ribosome. Our research integrates molecular genetics, computational biology, mouse models, and human cohorts to understand the role of rDNA variation in human traits.
Rodriguez-Algarra F, Evans DM, Rakyan VK (2024) "Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank",Cell Genomics, 12;4(6):100562 (PMID: 38749448).
Rodriguez-Algarra F, Seaborne RAE, Danson AF, Yildizoglu S, Yoshikawa H, Law PP, Ahmad Z, Maudsley VA, Brew A, Holmes N, Ochôa M, Hodgkinson A, Marzi SJ, Pradeepa MM, Loose M, Holland ML, Rakyan VK (2022) "Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states", Genome Biol, 23:54 (PMID: 35164830)
Lowe R, Barton C, Jenkins CA, Ernst C, Forman O, Fernandez-Twinn DS, Bock C, Rossiter SJ, Faulkes CG, Ozanne SE, Walter L, Odom DT, Mellersh C, Rakyan VK (2018) "Ageing-associated DNA methylation dynamics are a molecular readout of lifespan variation among mammalian species", Genome Biol, 19:22 (PMID: 29452591)
Holland ML, Lowe R, Caton PW, Gemma C, Carbajosa G, Danson AF, Carpenter AA, Loche E, Ozanne SE, Rakyan VK (2016) "Early-life nutrition modulates the epigenetic state of specific rDNA genetic variants in mice", Science, 353:495-8 (PMID: 27386920)
Rakyan VK, Down TA, Balding DJ, Beck S (2011) "Epigenome-wide association studies for common human diseases", Nature Reviews Genetics, 12:529-41 (PMID: 21747404)