How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
| Autor: | Marta Olszewska, Maciej Kurpisz, Ewa Wiland, Tomasz Woźniak |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Heterozygote Aneuploidy Robertsonian translocation Chromosomal translocation Review Biology medicine.disease_cause Chromosomes Translocation Genetic 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Molecular classification Meiosis Chromosome Segregation medicine Humans Molecular Biology Pharmacology Genetics 030219 obstetrics & reproductive medicine Breakpoint Cell Biology medicine.disease Sperm Spermatozoa 030104 developmental biology Rare and common robertsonian translocations Sperm chromosomes Molecular Medicine |
| Zdroj: | Cellular and Molecular Life Sciences |
| ISSN: | 1420-9071 |
| Popis: | In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out. Electronic supplementary material The online version of this article (10.1007/s00018-020-03560-5) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink