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果蝇中一种睾丸特异性β-微管蛋白的突变:其对减数分裂的影响及基因的图谱定位分析。

Mutation in a testis-specific beta-tubulin in Drosophila: analysis of its effects on meiosis and map location of the gene.

作者信息

Kemphues K J, Raff E C, Raff R A, Kaufman T C

出版信息

Cell. 1980 Sep;21(2):445-51. doi: 10.1016/0092-8674(80)90481-x.

Abstract

The structural gene for a testis-specific beta--tubulin subunit in Drosophila melanogaster was mapped genetically and cytogenetically by means of a dominant male sterile mutation, B2tD, in which a variant form of the testis beta--tubulin is expressed. The B2t locus is at 48.5 map units on the third chromosome genetic map, and in bands 85D4-7 on the salivary chromosome map. The mutation B2tD causes disruption of microtubule function in all stages of spermatogenesis, beginning with meiosis. The effects of gene dosage of B2tD on meiosis were examined in detail cytologically at the light microscope level. In testes of flies in which the variant tubulin subunit is expressed, abnormal meiotic spindle formation, improper chromosome movement and failure to undergo cytokinesis occur. The extent of these defects in microtubule function depends on the dosage of the B2tD mutation, being most severe in males homozygous for the mutation, intermediate in males heterozygous for the mutation, and least marked in males heterozygous for B2tD and a tandem duplication of the region of the genome containing the B2t locus. Chromosomal events unrelated to microtubule function, such as replication and condensation, occur normally. Results obtained during mapping of the B2t locus strongly suggest a haplo-insufficient site at or closely linked to this locus.

摘要

利用一种显性雄性不育突变B2tD,对黑腹果蝇中一种睾丸特异性β-微管蛋白亚基的结构基因进行了遗传和细胞遗传学定位。在该突变中,表达了一种变异形式的睾丸β-微管蛋白。B2t基因座位于第三染色体遗传图谱的48.5个图距单位处,在唾液腺染色体图谱的85D4 - 7带。突变B2tD导致从减数分裂开始的精子发生所有阶段微管功能的破坏。在光学显微镜水平上,详细地细胞学检查了B2tD基因剂量对减数分裂的影响。在表达变异微管蛋白亚基的果蝇睾丸中,会出现异常的减数分裂纺锤体形成、染色体移动不当以及无法进行胞质分裂。这些微管功能缺陷的程度取决于B2tD突变的剂量,在该突变的纯合雄性中最为严重,在该突变的杂合雄性中为中等程度,而在B2tD杂合且基因组中包含B2t基因座区域存在串联重复的雄性中最不明显。与微管功能无关的染色体事件,如复制和凝聚,正常发生。在B2t基因座定位过程中获得的结果强烈表明,该基因座或与其紧密连锁的位点存在单倍体不足。

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