Complete genomic and epigenetic maps of human centromeres.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Altemose, N; Logsdon, GA; Bzikadze, AV; Sidhwani, P; Langley, SA; Caldas, GV; Hoyt, SJ; Uralsky, L; Ryabov, FD; Shew, CJ; Sauria, MEG; Borchers, M; Gershman, A; Mikheenko, A; Shepelev, VA; Dvorkina, T; Kunyavskaya, O; Vollger, MR; Rhie, A; McCartney, AM; Asri, M; Lorig-Roach, R; Shafin, K; Lucas, JK; Aganezov, S; Olson, D; de Lima, LG; Potapova, T; Hartley, GA; Haukness, M; Kerpedjiev, P; Gusev, F; Tigyi, K; Brooks, S; Young, A; Nurk, S; Koren, S; Salama, SR; Paten, B; Rogaev, EI; Streets, A; Karpen, GH; Dernburg, AF; Sullivan, BA; Straight, AF; Wheeler, TJ; Gerton, JL; Eichler, EE; Phillippy, AM; Timp, W; Dennis, MY; O'Neill, RJ; Zook, JM; Schatz, MC; Pevzner, PA; Diekhans, M; Langley, CH; Alexandrov, IA; Miga, KH

Published Date

  • April 2022

Published In

Volume / Issue

  • 376 / 6588

Start / End Page

  • eabl4178 -

PubMed ID

  • 35357911

Pubmed Central ID

  • PMC9233505

Electronic International Standard Serial Number (EISSN)

  • 1095-9203

Digital Object Identifier (DOI)

  • 10.1126/science.abl4178


  • eng

Conference Location

  • United States