Complete genomic and epigenetic maps of human centromeres.
Nicolas AltemoseGlennis A LogsdonAndrey V BzikadzePragya SidhwaniSasha A LangleyGina V CaldasSavannah J HoytLev I UralskyFedor D RyabovColin J ShewMichael E G SauriaMatthew BorchersAriel GershmanAlla MikheenkoValery A ShepelevTatiana DvorkinaOlga KunyavskayaMitchell R VollgerArang RhieAnn M McCartneyMobin AsriRyan Lorig-RoachKishwar ShafinJulian K LucasSergey AganezovDaniel R OlsonLeonardo Gomes de LimaTamara A PotapovaGabrielle A HartleyMarina HauknessPeter KerpedjievFedor E GusevKristof TigyiShelise BrooksAlice C YoungSergey NurkSergey KorenSofie R SalamaBenedict PatenEvgeny I RogaevAaron StreetsGary H KarpenAbby F DernburgBeth A SullivanAaron F StraightTravis J WheelerJennifer L GertonEvan E EichlerAdam M PhillippyWinston TimpMegan Y DennisRachel J O'NeillJustin M ZookMichael C SchatzPavel A PevznerMark E DiekhansCharles H LangleyIvan A AlexandrovKaren H MigaPublished in: Science (New York, N.Y.) (2022)
Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a complete, telomere-to-telomere human genome assembly (T2T-CHM13) has enabled us to comprehensively characterize pericentromeric and centromeric repeats, which constitute 6.2% of the genome (189.9 megabases). Detailed maps of these regions revealed multimegabase structural rearrangements, including in active centromeric repeat arrays. Analysis of centromere-associated sequences uncovered a strong relationship between the position of the centromere and the evolution of the surrounding DNA through layered repeat expansions. Furthermore, comparisons of chromosome X centromeres across a diverse panel of individuals illuminated high degrees of structural, epigenetic, and sequence variation in these complex and rapidly evolving regions.