Dai X, Guo X. Decoding and rejuvenating human ageing genomes: lessons from mosaic chromosomal alterations. Ageing Res Rev. 2021;68(1):101342.

Article  PubMed  CAS  Google Scholar 

Jaiswal S, Ebert BL. Clonal hematopoiesis in human aging and disease. Science. 2019;366(6465):eaan4673.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, Sandgren J, de Ståhl TD, Zaghlool A, Giedraitis V, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46(6):624–8.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sano S, Horitani K, Ogawa H, Halvardson J, Chavkin NW, Wang Y, Sano M, Mattisson J, Hata A, Danielsson M, et al. Hematopoietic loss of Y chromosome leads to cardiac fibrosis and heart failure mortality. Science. 2022;377(6603):292–7.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Zhang Q, Zhao L, Yang Y, Li S, Liu Y, Chen C. Mosaic loss of chromosome Y promotes leukemogenesis and clonal hematopoiesis. JCI Insight. 2022;7(3): e153768.

Article  PubMed  PubMed Central  Google Scholar 

Bronikowski AM, Meisel RP, Biga PR, Walters JR, Mank JE, Larschan E, Wilkinson GS, Valenzuela N, Conard AM, de Magalhães JP, et al. Sex-specific aging in animals: perspective and future directions. Aging Cell. 2022;21(2): e13542.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hughes JF, Page DC. The biology and evolution of mammalian Y chromosomes. Ann Rev Genet. 2015;49(1):507–27.

Article  PubMed  CAS  Google Scholar 

Lau Y-FC. Y chromosome in health and diseases. Cell Biosci. 2020;10(1):97.

Article  PubMed  PubMed Central  Google Scholar 

Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, et al. The complete sequence of a human Y chromosome. Nature. 2023;621(7978):344–54.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, et al. Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature. 2023;621(7978):355–64.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Lucotte EA, Guðmundsdóttir VB, Jensen JM, Skov L, Macià MC, Almstrup K, Schierup MH, Helgason A, Stefansson K. Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions. Nat Commun. 2023;14(1):3990.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Watson CJ, Blundell JR. Mutation rates and fitness consequences of mosaic chromosomal alterations in blood. Nat Genet. 2023;55(10):1677–85.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Mitchell E, Spencer CM, Williams N, Dawson KJ, Mende N, Calderbank EF, Jung H, Mitchell T, Coorens THH, Spencer DH, et al. Clonal dynamics of haematopoiesis across the human lifespan. Nature. 2022;606(7913):343–50.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Fachinetti D, Han JS, McMahon MA, Ly P, Abdullah A, Wong AJ, Cleveland DW, DNA,. sequence-specific binding of CENP-B enhances the fidelity of human centromere function. Dev Cell. 2015;33(3):314–27.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Logsdon GA, Rozanski AN, Ryabov F, Potapova T, Shepelev VA, Catacchio CR, Porubsky D, Mao Y, Yoo D, Rautiainen M, et al. The variation and evolution of complete human centromeres. Nature. 2024;629(8010):136–45.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kipling D, Warburton PE. Centromeres, CENP-B and Tigger too. Trends Genet. 1997;13(4):141–5.

Article  PubMed  CAS  Google Scholar 

Guo X, Dai X, Zhou T, Wang H, Ni J, Xue J, Wang X. Mosaic loss of human Y chromosome: what, how and why. Hum Genet. 2020;139(4):421–46.

Article  PubMed  Google Scholar 

Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994;53(2):108–40.

Article  PubMed  CAS  Google Scholar 

Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, Brown LG, Oates RD, Silber S, Repping S, Page DC. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell. 2009;138(5):855–69.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, Rouba H, Bujan L, Bourrouillou G, Seifer I, et al. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod. 2000;15(12):2559–62.

Article  PubMed  CAS  Google Scholar 

Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A. 2005;135(2):145–9.

Article  PubMed  Google Scholar 

Fedder J, Fagerberg C, Jørgensen MW, Gravholt CH, Berglund A, Knudsen UB, Skakkebæk A. Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men. Basic Clin Androl. 2023;33(1):37.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Stone JF, Sandberg AA. Sex chromosome aneuploidy and aging. Mutat Res DNAging. 1995;338(1–6):107–13.

Article  CAS  Google Scholar 

Karimian K, Groot A, Huso V, Kahidi R, Tan K-T, Sholes S, Keener R, McDyer JF, Alder JK, Li H, et al. Human telomere length is chromosome end–specific and conserved across individuals. Science. 2024;384(6695):533–9.

Article  PubMed  CAS  Google Scholar 

Mayer S, Brüderlein S, Perner S, Waibel I, Holdenried A, Ciloglu N, Hasel C, Mattfeldt T, Nielsen KV, Möller P. Sex-specific telomere length profiles and age-dependent erosion dynamics of individual chromosome arms in humans. Cytogenet Genome Res. 2006;112(3–4):194–201.

Article  PubMed  CAS  Google Scholar 

Takenouchi O, Sakakibara Y, Kitajima TS. Live chromosome identifying and tracking reveals size-based spatial pathway of meiotic errors in oocytes. Science. 2024;385(6706):eadn5529.

Article  PubMed  CAS  Google Scholar 

Klaasen SJ, Truong MA, van Jaarsveld RH, Koprivec I, Štimac V, de Vries SG, Risteski P, Kodba S, Vukušić K, de Luca KL, et al. Nuclear chromosome locations dictate segregation error frequencies. Nature. 2022;607(7919):604–9.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Duijf PHG, Schultz N, Benezra R. Cancer cells preferentially lose small chromosomes. Int J Cancer. 2013;132(10):2316–26.

Article  PubMed  CAS  Google Scholar 

Fischer J, Shutta K, Chen C, Fanfani V, Saha E, Mandros P, Ben GM, Xiu J, Nieva J, Liu S, et al. Selective loss of Y chromosomes in lung adenocarcinoma modulates the tumor immune environment through cancer/testis antigens. bioRxiv. 2024;619:7970. https://doi.org/10.1101/2024.1109.1119.613876.