Chromosome Positioning and Male Infertility: It Comes with the Territory
Overview
Reproductive Medicine
Affiliations
The production of functional spermatozoa through spermatogenesis requires a spatially and temporally highly regulated gene expression pattern, which in case of alterations, leads to male infertility. Changes of gene expression by chromosome anomalies, gene variants, and epigenetic alterations have been described as the main genetic causes of male infertility. Recent molecular and cytogenetic approaches have revealed that higher order chromosome positioning is essential for basic genome functions, including gene expression. This review addresses this issue by exposing well-founded evidences which support that alterations on the chromosome topology in spermatogenetic cells leads to defective sperm function and could be considered as an additional genetic cause of male infertility.
Martinez G, Cappetta D, Telesca M, Urbanek K, Castaldo G, Dhellemmes M Int J Biol Sci. 2023; 19(7):2234-2255.
PMID: 37151878 PMC: 10158014. DOI: 10.7150/ijbs.77166.
Chromosome Territories in Hematological Malignancies.
Lima M, Lisboa M, Terceiro L, Rangel-Pozzo A, Mai S Cells. 2022; 11(8).
PMID: 35456046 PMC: 9028803. DOI: 10.3390/cells11081368.
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.
Human Sperm Chromosomes: To Form Hairpin-Loops, Or Not to Form Hairpin-Loops, That Is the Question.
Ioannou D, Tempest H Genes (Basel). 2019; 10(7).
PMID: 31277336 PMC: 6678829. DOI: 10.3390/genes10070504.
Ribagorda M, Berrios S, Solano E, Ayarza E, Martin-Ruiz M, Gil-Fernandez A Chromosoma. 2019; 128(2):149-163.
PMID: 30826871 DOI: 10.1007/s00412-019-00695-8.