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黑腹果蝇Y染色体一段的细胞遗传学分析。

Cytogenetic analysis of a segment of the Y chromosome of Drosophila melanogaster.

作者信息

Hardy R W, Lindsley D L, Livak K J, Lewis B, Siversten A L, Joslyn G L, Edwards J, Bonaccorsi S

出版信息

Genetics. 1984 Aug;107(4):591-610. doi: 10.1093/genetics/107.4.591.

Abstract

Males carrying a large deficiency in the long arm of the Y chromosome known to delete the fertility gene kl-2 are sterile and exhibit a complex phenotype: (1) First metaphase chromosomes are irregular in outline and appear sticky; (2) spermatids contain micronuclei; (3) the nebenkerns of the spermatids are nonuniform in size; (4) a high molecular weight protein ordinarily present in sperm is absent; and (5) crystals appear in the nucleus and cytoplasm of spermatocytes and spermatids. In such males that carry Ste+ on their X chromosome the crystals appear long and needle shaped; in Ste males the needles are much shorter and assemble into star-shaped aggregates. The large deficiency may be subdivided into two shorter component deficiencies. The more distal is male sterile and lacks the high molecular weight polypeptide; the more proximal is responsible for the remainder of the phenotype. Ste males carrying the more proximal component deficiency are sterile, but Ste+ males are fertile. Genetic studies of chromosome segregation in such males reveal that (1) both the sex chromosomes and the large autosomes undergo nondisjunction, (2) the fourth chromosomes disjoin regularly, (3) sex chromosome nondisjunction is more frequent in cells in which the second or third chromosomes nondisjoin than in cells in which autosomal disjunction is regular, (4) in doubly exceptional cells, the sex chromosomes tend to segregate to the opposite pole from the autosomes and (5) there is meiotic drive; i.e., reciprocal meiotic products are not recovered with equal frequencies, complements with fewer chromosomes being recovered more frequently than those with more chromosomes. The proximal component deficiency can itself be further subdivided into two smaller component deficiencies, both of which have nearly normal spermatogenic phenotypes as observed in the light microscope. Meiosis in Ste+ males carrying either of these small Y deficiencies is normal; Ste males, however, exhibit low levels of sex chromosome nondisjunction with either deficient Y. The meiotic phenotype is apparently sensitive to the amount of Y chromosome missing and to the Ste constitution of the X chromosome.

摘要

携带已知会缺失生育基因kl - 2的Y染色体长臂大片段缺失的雄性个体是不育的,并表现出复杂的表型:(1)第一次减数分裂中期染色体轮廓不规则,看起来有黏性;(2)精子细胞含有微核;(3)精子细胞的 nebenkerns 大小不一;(4)通常存在于精子中的一种高分子量蛋白质缺失;(5)在精母细胞和精子细胞的细胞核及细胞质中出现晶体。在其X染色体上携带Ste + 的此类雄性个体中,晶体呈长针状;在Ste雄性个体中,针状物要短得多,并聚集成星形聚集体。大片段缺失可细分为两个较短的组成性缺失。更远端的缺失导致雄性不育且缺乏高分子量多肽;更近端的缺失则导致其余表型。携带更近端组成性缺失的Ste雄性个体是不育的,但携带Ste + 的雄性个体是可育的。对此类雄性个体染色体分离的遗传学研究表明:(1)性染色体和大型常染色体都会发生不分离;(2)第四条染色体正常分离;(3)在第二条或第三条染色体不分离的细胞中,性染色体不分离比常染色体正常分离的细胞中更频繁;(4)在双异常细胞中,性染色体倾向于与常染色体分离到相反的极;(5)存在减数分裂驱动;即,相互的减数分裂产物回收频率不相等——染色体较少的互补型比染色体较多的互补型回收频率更高。近端组成性缺失本身可进一步细分为两个更小的组成性缺失,在光学显微镜下观察,这两个缺失的精子发生表型几乎都正常。携带这两种小Y缺失之一的Ste + 雄性个体减数分裂正常;然而,Ste雄性个体无论携带哪种缺失的Y染色体,性染色体不分离水平都较低。减数分裂表型显然对缺失的Y染色体数量以及X染色体的Ste组成敏感。

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