The Effect of Robertsonian Translocations on the Intranuclear Positioning of NORs (nucleolar Organizing Regions) in Human Sperm Cells

Overview

Journal Sci Rep

Specialty Science

Date 2019 Feb 20

PMID 30778082

Citations 2

Authors

Ewa Wiland

Marta Olszewska

Nataliya Huleyuk

Vyacheslav B Chernykh

Maciej Kurpisz

Affiliations

Soon will be listed here.

Abstract

Only a few studies have described sperm chromosome intranuclear positioning changes in men with reproductive failure and an incorrect somatic karyotype. We studied the influence of Robertsonian translocations on the acrocentric chromosome positioning in human sperm cells. The basis of the analysis was the localization of NORs (nucleolar organizing regions) in sperm nuclei from three Robertsonian translocation carriers, namely, rob(13;22), rob(13;15) and rob(13;14), with a known meiotic segregation pattern. All three carriers presented with a similar percentage of genetically normal sperm cells (i.e., approximately 40%). To visualize NORs, we performed 2D-FISH with directly labelled probes. We used the linear and radial topologies of the nucleus to analyse the NORs distribution. We found an affected positioning of NORs in each case of the Robertsonian translocations. Moreover, the NORs tended to group, most often in two clusters. Both in Robertsonian carriers and control sperm cells, NORs mostly colocalized in the medial areas of the nuclei. In the case of the Roberstonian carriers, NORs were mostly concentrated in the peripheral part of the medial area, in contrast to control sperm cells in which the distribution was more dispersed towards the internal area.

Citing Articles

Prevalence and Phenotypic Impact of Robertsonian Translocations.

Poot M, Hochstenbach R Mol Syndromol. 2021; 12(1):1-11.

PMID: 33776621 PMC: 7983559. DOI: 10.1159/000512676.

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?.

Wiland E, Olszewska M, Wozniak T, Kurpisz M Cell Mol Life Sci. 2020; 77(23):4765-4785.

PMID: 32514588 PMC: 7658086. DOI: 10.1007/s00018-020-03560-5.

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