Prajna Hebbar, Tamara Potapova, Hailey Loucks, Karina Ray, Murillo F Rodrigues, Fedor Ryabov, Joanna Malukiewicz, DongAhn Yoo, Leonardo Gomes de Lima, Annat Haber, Sonal Kumar, Swati Banerjee, Matthew Borchers, Gage H Garcia, Joshua Gardner, Stephanie Hachem, Harrison D Heath, Seung Kwon Ha, Mira Mastoras, Brandy McNulty, Julian Menendez, Katherine M Munson, Karol Pal, JungEun Park, Simon Plösch, Christian Roos, William E Seligmann, Valery Shepelev, Catrina Spruce, Ivo Violich, Lutz Walter, Kateryna D Makova, Amantha Thathiah, Stacey J Sukoff Rizzo, Afonso C Silva, Gregory W Carter, Karen H Miga, Evan E Eichler, Donald F Conrad, Jennifer L Gerton, Ivan A Alexandrov, Benedict Paten
The common marmoset is a New World monkey widely used to study primate evolution and human disease. We present a telomere-to-telomere (T2T) reference assembly for the species, plus three near-T2T haplotypes. These resolve previously inaccessible regions, including the centromeres, sex chromosomes, subterminal satellites, acrocentric chromosomes, and the major histocompatibility complex (MHC). We find marmoset centromeres carry dimeric alpha satellites with chromosomal specificity, flanked by inactive layers interpreted as ancestral centromere remnants. We assemble gene-poor, satellite-rich short arms of the acrocentrics and find that most can harbor rDNA and all share pseudo-homolog regions (PHRs). PHR-sharing chromosomes also share closely related centromeric satellites, consistent with a model of ongoing rDNA-facilitated recombinational exchange between heterologous chromosomes. We further identify over 500 marmoset-lineage-specific transcribed genes with previously unknown transcript models or expansions. These resources, along with a preliminary pangenome, improve the utility of the marmoset as a model organism and address gaps in primate genome evolution.