当前位置: X-MOL 学术Cell. Mol. Life Sci. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
Cellular and Molecular Life Sciences ( IF 8 ) Pub Date : 2020-06-08 , DOI: 10.1007/s00018-020-03560-5
Ewa Wiland 1 , Marta Olszewska 1 , Tomasz Woźniak 1 , Maciej Kurpisz 1
Affiliation  

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.



中文翻译:

我们对罗伯逊易位携带者的精子染色体了解多少(如果有的话)?

在少精症男性中,罗伯逊易位(RobTs)是常染色体畸变的最常见类型。最常见的类型是rob(13; 14)和rob(14; 21),其他类型的RobT被描述为“罕见”情况。根据分子研究,所有RobTs可以大致分为1类和2类。1类易位在其RobT类型内产生相同的断裂点,但是2类易位预计会通过多种机制在减数分裂或有丝分裂期间形成。断点位置的变化。这篇综述旨在分析可解决的问题,即是否将RobTs的分子分类分为1类和2类和/或所涉及染色体的DD / GG / DG对称性类型是否反映在精子发生效率上。对于rob(13; 15)载波(2类,对称性DD),发现了针对交替隔离子速率计算的最低频率值,而对于rob(13; 21)载波(2类,DG对称性)则发现了最高频率值。罕见的RobT(第2类)和普通rob(14; 21)(第1类)组的非整倍性值一起显示出相似性,而不同于普通rob(13; 14)(第1类)组。考虑到将RobT携带者分为正常精子症和少精子症精子症的携带者,发现两个亚组中非整倍性水平升高的携带者的数量出乎意料地非常相似且很高(约70%)。还指出了相同的RobT并不总是显示出对生育力相似的破坏性作用的原因。对称DD)和rob(13; 21)载波最高(Class 2,DG对称)。罕见的RobT(第2类)和普通rob(14; 21)(第1类)组的非整倍性值一起显示出相似性,而不同于普通rob(13; 14)(第1类)组。考虑到将RobT携带者分为正常精子症和少精子症精子症的携带者,发现两个亚组中非整倍性水平升高的携带者的数量出乎意料地非常相似且很高(约70%)。还指出了相同的RobT并不总是显示出对生育力相似的破坏性作用的原因。对称DD)和rob(13; 21)载波最高(Class 2,DG对称)。罕见的RobT(第2类)和普通rob(14; 21)(第1类)组的非整倍性值一起显示出相似性,而不同于普通rob(13; 14)(第1类)组。考虑到将RobT携带者分为正常精子症和少精子症精子症的携带者,发现两个亚组中非整倍性水平升高的携带者的数量出乎意料地非常相似且很高(约70%)。还指出了相同的RobT并不总是显示出对生育力相似的破坏性作用的原因。21)(第1类)组共同表现出相似之处,但不同于普通rob(13; 14)(第1类)组。考虑到将RobT携带者分为正常精子症和少精子症精子症的携带者,发现两个亚组中非整倍性水平升高的携带者的数量出乎意料地非常相似且很高(约70%)。还指出了相同的RobT并不总是显示出对生育力相似的破坏性作用的原因。21)(第1类)组共同表现出相似之处,但不同于普通rob(13; 14)(第1类)组。考虑到将RobT携带者分为正常精子症和少精子症精子症的携带者,发现两个亚组中非整倍性水平升高的携带者的数量出乎意料地非常相似且很高(约70%)。还指出了相同的RobT并不总是显示出对生育力相似的破坏性作用的原因。

更新日期:2020-06-08
down
wechat
bug