The frequency of aneuploid gamete formation increases with maternal age,yet the effects of genetic variants on meiotic chromosome segregation accuracy during aging remain poorly understood.Using the multicellular orga...The frequency of aneuploid gamete formation increases with maternal age,yet the effects of genetic variants on meiotic chromosome segregation accuracy during aging remain poorly understood.Using the multicellular organism Caenorhabditis elegans,we investigate the impact of mutations in the conserved cohesin complex on age-associated meiotic errors.Point mutations in the head domain of the cohesin component SMC-1,which alter local hydrophobicity,cause meiotic defects that vary with age.A severe mutation causes incomplete synapsis and defective crossover formation,and a minor one causes age-related diakinesis bivalent abnormalities.Notably,while the mild mutation causes defects only in aged worms,worms with the severe mutation exhibit significantly alleviated phenotypes with age.Genetic and cytological analyses suggest that this alleviation results from a slowed meiotic progression during early prophase,which restores impaired cohesin loading.These findings reveal that cohesin variants,meiotic progression speed during early prophase,and the overall duration of meiosis collectively shape the accuracy of meiotic chromosome segregation.展开更多
荧光原位杂交(FISH)是在染色体、间期细胞核和DNA纤维上进行DNA序列定位的一种有效手段。近年来,围绕提高检测的分辨率和灵敏性,不断将免疫染色、量子点和微流控芯片等物理化学技术引入到荧光原位杂交中,促进了它的快速发展。本文主要...荧光原位杂交(FISH)是在染色体、间期细胞核和DNA纤维上进行DNA序列定位的一种有效手段。近年来,围绕提高检测的分辨率和灵敏性,不断将免疫染色、量子点和微流控芯片等物理化学技术引入到荧光原位杂交中,促进了它的快速发展。本文主要综述了荧光原位杂交的基本原理和发展历程,重点介绍了免疫染色-荧光原位杂交(immuno-FISH)、量子点-荧光原位杂交(QD-FISH)和微流控芯片-荧光原位杂交(FISH on microchip)等多种新技术及其检测特点,如快速、灵敏、动态、多样化等。随着荧光原位杂交技术的不断完善与发展,将在细胞遗传学、表观遗传学及分子生物学等领域发挥更加重要的作用。展开更多
基金supported by grants from the National Natural Science Foundation of China(32370780 and 32022018)the National Key Research and Development Program of China(2021YFA1101001)+1 种基金the Taishan Scholars Program Special FundSome strains were provided by the CGC,which is funded by NIH Office of Research Infrastructure Programs(P40 OD010440).
文摘The frequency of aneuploid gamete formation increases with maternal age,yet the effects of genetic variants on meiotic chromosome segregation accuracy during aging remain poorly understood.Using the multicellular organism Caenorhabditis elegans,we investigate the impact of mutations in the conserved cohesin complex on age-associated meiotic errors.Point mutations in the head domain of the cohesin component SMC-1,which alter local hydrophobicity,cause meiotic defects that vary with age.A severe mutation causes incomplete synapsis and defective crossover formation,and a minor one causes age-related diakinesis bivalent abnormalities.Notably,while the mild mutation causes defects only in aged worms,worms with the severe mutation exhibit significantly alleviated phenotypes with age.Genetic and cytological analyses suggest that this alleviation results from a slowed meiotic progression during early prophase,which restores impaired cohesin loading.These findings reveal that cohesin variants,meiotic progression speed during early prophase,and the overall duration of meiosis collectively shape the accuracy of meiotic chromosome segregation.
文摘荧光原位杂交(FISH)是在染色体、间期细胞核和DNA纤维上进行DNA序列定位的一种有效手段。近年来,围绕提高检测的分辨率和灵敏性,不断将免疫染色、量子点和微流控芯片等物理化学技术引入到荧光原位杂交中,促进了它的快速发展。本文主要综述了荧光原位杂交的基本原理和发展历程,重点介绍了免疫染色-荧光原位杂交(immuno-FISH)、量子点-荧光原位杂交(QD-FISH)和微流控芯片-荧光原位杂交(FISH on microchip)等多种新技术及其检测特点,如快速、灵敏、动态、多样化等。随着荧光原位杂交技术的不断完善与发展,将在细胞遗传学、表观遗传学及分子生物学等领域发挥更加重要的作用。
