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人类XY染色体对中的突触行为和重组节

Synaptic behaviour and recombination nodules in the human XY pair.

作者信息

Solari A J

机构信息

Centro de Investigaciones en Reproduccion, Facultad de Medicina, Buenos Aires, Argentina.

出版信息

Genetica. 1988 Sep 30;77(2):149-58. doi: 10.1007/BF00057766.

Abstract

A sample of 90 XY pairs from men with normal karyotypes has been analyzed by measuring their morphological features in electron micrographs of microspread spermatocytes. The classification of human XY types (Solari, 1980) has been given stricter definitions. Stepwise splitting of the axes is seen in types 1 and 2. The development of axial branches and lengthening of the X axis is seen in type 3. In the two subtypes a and b of type 4 the net-like filamentous array grows in length to a maximum (average = 59.7 microns) in subtype b. The location of the putative Y kinetochore defines a short arm that measures 22.34% of Y axis length, and the kinetochore of the X axis defines a short arm of 38.15% of the axial length. The average number of excrescences in the X axis is 19.9 and in the Y is 4.3. The frequency of a non-homologous, distal end-joining grows steadily from type 0 to type 3. The average length of the synaptonemal complex (SC) in 51 XY pairs of types 1 and 2 is 1.33 microns (SD = 0.65) and it corresponds to 25.54% of the Y axis length. Thus, the average SC covers the short arm of the Y and the pericentromeric region. Maximum lengths of this SC may reach up to 81.8% of the Y axis. 30 recombination nodules (RNs) were located in 26 XY pairs, and 90% of the nodules are located in the distal half of the short arm of the Y axis. Thus, RNs are restricted to a segment much shorter than the length of the average SC. A gradient of decreasing probability of recombination may reach up to the centromeric region of the Y chromosome. Some possible consequences of these facts are discussed.

摘要

从核型正常的男性中选取了90对XY染色体对,通过在微铺展精母细胞的电子显微照片中测量其形态特征进行了分析。人类XY类型的分类(索拉里,1980年)得到了更严格的定义。在1型和2型中可见轴的逐步分裂。在3型中可见轴分支的发育和X轴的延长。在4型的两个亚型a和b中,亚型b中的网状丝状阵列长度增长到最大(平均 = 59.7微米)。假定的Y着丝粒的位置定义了一个短臂,其长度为Y轴长度的22.34%,X轴的着丝粒定义了一个轴向长度的38.15%的短臂。X轴上的赘生物平均数量为19.9个,Y轴上为4.3个。非同源远端末端连接的频率从0型到3型稳步增加。在51对1型和2型的XY染色体对中,联会复合体(SC)的平均长度为1.33微米(标准差 = 0.65),它对应于Y轴长度的25.54%。因此,平均SC覆盖了Y的短臂和着丝粒周围区域。该SC的最大长度可能达到Y轴的81.8%。在26对XY染色体对中定位到了30个重组结节(RNs),90%的结节位于Y轴短臂的远端一半。因此,RNs被限制在一个比平均SC长度短得多的片段中。重组概率降低的梯度可能一直延伸到Y染色体的着丝粒区域。讨论了这些事实的一些可能后果。

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