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人类精母细胞中核仁、近端着丝粒染色体短臂与XY染色体对的关联:其在促进性染色体近端着丝粒易位中可能发挥的作用。

The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: its possible role in facilitating sex-chromosome acrocentric translocations.

作者信息

Stahl A, Hartung M, Devictor M, Bergé-Lefranc J L

出版信息

Hum Genet. 1984;68(2):173-80. doi: 10.1007/BF00279310.

Abstract

Sex vesicle-nucleolus association was observed in 12% of zygotene and pachytene human spermatocytes using Giemsa and NOR-silver stained preparations. The silver-positive area of the nucleolus, corresponding to the nucleolus organizer (NOR), was usually close to the XY pair. C-banding frequently showed the terminal chromomere, formed by the condensed short arm of an acrocentric bivalent, attached to the sex vesicle. When a nucleolus produced by transcription of rDNA was connected to the short arm, it seemed to be secondarily associated with the sex vesicle. Non-transcribed ribosomal genes, which did not form a nucleolus, were revealed by in situ hybridization. Autoradiographs showed the rDNA-containing short arm of acrocentric bivalents associated with the sex vesicle in 18% of spermatocytes. The difference with the frequency of nucleolus-XY pair association was partially explained by the presence of inactive ribosomal genes. Moreover, electron microscopy showed that the dimensions of the newly formed nucleoli at early zygotene did not exceed 0.5 micron; they can be missed in light microscope investigations. From early zygotene to late pachytene, close relationships were observed between the sex vesicle chromatin and that of the associated acrocentric bivalent, especially in the short arm region. These relationships might explain the frequent involvement of acrocentrics in Y-autosome and X-autosome translocations occurring during male meiosis.

摘要

使用吉姆萨染色和核仁组织区银染制片法,在12%的偶线期和粗线期人类精母细胞中观察到性泡-核仁关联。核仁的银阳性区域,对应于核仁组织区(NOR),通常靠近XY染色体对。C带常显示端粒染色粒,由近端着丝粒二价体的浓缩短臂形成,附着于性泡。当由rDNA转录产生的核仁与短臂相连时,它似乎是继发于与性泡的关联。通过原位杂交揭示了未形成核仁的非转录核糖体基因。放射自显影片显示,在18%的精母细胞中,近端着丝粒二价体含rDNA的短臂与性泡相关联。核仁-XY染色体对关联频率的差异部分是由于存在无活性的核糖体基因。此外,电子显微镜显示,偶线期早期新形成的核仁尺寸不超过0.5微米;在光学显微镜观察中可能会遗漏它们。从偶线期早期到粗线期晚期,观察到性泡染色质与相关近端着丝粒二价体的染色质之间存在密切关系,尤其是在短臂区域。这些关系可能解释了近端着丝粒染色体在男性减数分裂期间频繁参与Y-常染色体和X-常染色体易位的现象。

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