Gläser B, Hierl T, Taylor K, Schiebel K, Zeitler S, Papadopoullos K, Rappold G, Schempp W
Institute of Human Genetics and Anthropology, University of Freiburg, Germany.
Chromosome Res. 1997 Feb;5(1):23-30. doi: 10.1023/a:1018437301461.
Genes within the differential region of the human Y chromosome do not recombine, and therefore the determination of their location depends on physical mapping. Yeast artificial chromosome (YAC) contigs spanning the euchromatic region of the human Y have become a powerful tool for the generation of an overlapping clone map. With this approach, however, complete physical mapping is difficult in Y euchromatic regions that are rich in repetitive sequences. We have, therefore, made use of the fluorescence in situ hybridization technique as an alternative strategy for physically mapping the PRKY and AMELY genes as well as the TSPY, RBM and DAZ gene families to human Y chromosomes in prometaphase and to extended Y chromatin in interphase. From our results, the following order of gene sequences in interval 3 of the short arm of the human Y chromosome is suggested: TSPY major with few RBM sequences interspersed-PRKY-AMELY-TSPY minor with few RBM sequences interspersed-cen. On the long arm, RBM sequences appear to be distributed over wide regions of intervals 5 and 6 with few TSPY sequences interspersed. Distal to an RBM signal cluster, a large cluster of DAZ signals is located with only a few DAZ and RBM signals overlapping in between the two clusters.
人类Y染色体差异区域内的基因不会发生重组，因此确定它们的位置依赖于物理图谱绘制。跨越人类Y染色体常染色质区域的酵母人工染色体（YAC）重叠群已成为生成重叠克隆图谱的有力工具。然而，用这种方法在富含重复序列的Y常染色质区域进行完整的物理图谱绘制很困难。因此，我们利用荧光原位杂交技术作为一种替代策略，将PRKY和AMELY基因以及TSPY、RBM和DAZ基因家族物理定位到有丝分裂前期的人类Y染色体和间期延伸的Y染色质上。根据我们的结果，提出了人类Y染色体短臂区间3中基因序列的以下顺序：穿插少量RBM序列的主要TSPY基因-PRKY-AMELY-穿插少量RBM序列的次要TSPY基因-着丝粒。在长臂上，RBM序列似乎分布在区间5和6的广泛区域，穿插少量TSPY序列。在一个RBM信号簇的远端，有一个大的DAZ信号簇，两个簇之间只有少量DAZ和RBM信号重叠。
