Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome
Miriam Beatriz Goulart,
Eduardo Vieira Neto,
Daniela R. Ney Garcia,
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
Affiliations
Miriam Beatriz Goulart
Laboratory of Genetics, Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, RJ, Brazil
Eduardo Vieira Neto
Genetic and Genomic Medicine Division, Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15224, USA
Daniela R. Ney Garcia
Laboratory of Genetics, Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, RJ, Brazil
Marília Martins Guimarães
Pediatric Endocrinology Service, IPPMG, UFRJ, Rio de Janeiro 21941-912, RJ, Brazil
Isaías Soares de Paiva
Faculty of Medicine, University of Grande Rio (Unigranrio), Duque de Caxias 25071-202, RJ, Brazil
Karina de Ferran
Pediatric Endocrinology Service, IPPMG, UFRJ, Rio de Janeiro 21941-912, RJ, Brazil
Nathalia Correia Krause dos Santos
Pediatric Endocrinology Service, IPPMG, UFRJ, Rio de Janeiro 21941-912, RJ, Brazil
Luciana Santos Barbosa
Laboratory of Genetics, Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, RJ, Brazil
Amanda F. de Figueiredo
Laboratory of Genetics, Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, RJ, Brazil
Maria Cecília Menks Ribeiro
Laboratory of Genetics, Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, RJ, Brazil
Márcia Gonçalves Ribeiro
Laboratory of Genetics, Institute of Childcare and Pediatrics Martagão Gesteira (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-912, RJ, Brazil
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.
