Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome

Overview

Journal Life (Basel)

Specialty Biology

Date 2024 Jul 27

PMID 39063601

Authors

Miriam Beatriz Goulart

Eduardo Vieira Neto

Daniela R Ney Garcia

Marilia Martins Guimaraes

Isaias Soares de Paiva

Karina de Ferran

Nathalia Correia Krause Dos Santos

Luciana Santos Barbosa

Amanda F de Figueiredo

Maria Cecilia Menks Ribeiro

Marcia Goncalves Ribeiro

Affiliations

Soon will be listed here.

Abstract

Turner syndrome (TS) is caused by a complete or partial absence of an X or Y chromosome, including chromosomal mosaicism, affecting 1 in 2500 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 the proliferation dynamics and SCE frequencies of 45,X and 46,XN cells of 17 mosaic TS patients. In two participants, the 45,X cells exhibited a proliferative disadvantage in relation to 46,XN cells after 72 h of cultivation. The analysis of the mean proliferation index (PI) showed a trend for a significant difference between the 45,X and 46,X+der(X)/der(Y) cell lineages; however, there were no intra-individual differences. On the other hand, mean SCE frequencies showed that 46,X+der(X) had the highest mean value and 46,XX the lowest, with 45,X occupying an intermediate position among the lineages found in at least three participants; moreover, there were intra-individual differences in five patients. Although 46,X+der(X)/der(Y) cell lineages, found in more than 70% of participants, were the most unstable, they had a slightly higher mean PI than the 45,X cell lineages in younger (≤17 years) mosaic TS participants. This suggests that cells with a karyotype distinct from 45,X may increase with time in mosaic TS children and adolescents.

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