Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome

Miriam Beatriz Beatriz Goulart
,
Eduardo Vieira Neto
* ORCID logo ,
Daniela R. Ney Gracia
,
Marília Martins Guimarães
,
Isaías Soares De Paiva
,
Karina De Ferran
,
Nathalia Correia Krause Dos Santos
,
Luciana Santos Barbosa
,
Amanda F. De Figueiredo
,
Maria Cecília Menks Ribeiro
,
Márcia Gonçalves Ribeiro
Version 1 : Received: 26 February 2024 / Approved: 27 February 2024 / Online: 27 February 2024 (12:34:54 CET)

How to cite: Goulart, M.B.B.; Vieira Neto, E.; Gracia, D.R.N.; Guimarães, M.M.; De Paiva, I.S.; De Ferran, K.; Dos Santos, N.C.K.; Barbosa, L.S.; De Figueiredo, A.F.; Ribeiro, M.C.M.; Ribeiro, M.G. Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome. Preprints 2024, 2024021549. https://doi.org/10.20944/preprints202402.1549.v1 Goulart, M.B.B.; Vieira Neto, E.; Gracia, D.R.N.; Guimarães, M.M.; De Paiva, I.S.; De Ferran, K.; Dos Santos, N.C.K.; Barbosa, L.S.; De Figueiredo, A.F.; Ribeiro, M.C.M.; Ribeiro, M.G. Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome. Preprints 2024, 2024021549. https://doi.org/10.20944/preprints202402.1549.v1

Abstract

Turner syndrome (TS) is caused by a complete or partial absence of an X or Y chromosome, including chromosomal mosaicism, affecting 1 in 2,500 female live births. Sister chromatid exchange (SCE) is used as a sensitive indicator of spontaneous chromosome instability. Cells from mosaic patients constitute useful material for SCE evaluations as they grow under the influence of the same genetic background and endogenous and exogenous factors. We evaluated proliferation dynamics and SCE frequencies of 45,X and 46,XN cells of 17 mosaic TS patients. In two participants, 45,X cells exhibited a proliferative disadvantage in relation to 46,XN cells after 72h of cultivation. The analysis of mean PI showed significant differences between 45,X and 46,XN lineages; however there were no intraindividual differences. On the other hand, mean SCE frequencies showed no differences between the two lineages, but there were intraindividual differences in 5 patients. The absence of mean SCE frequency differences between 45,X and 46,XN lineages may indicate that both were equally unstable, as more than 70% of the 46,XN lineages had an anomalous karyotype. However, 46,XN had a higher mean PI, suggesting that the amount of cells with a karyotype distinct from 45,X may increase with time in mosaic TS women.

Keywords

Turner syndrome; chromosomal mosaicism; cell lineages; proliferation index; sister chromatid exchange; chromosomal instability

Subject

Biology and Life Sciences, Cell and Developmental Biology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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