Allen B S, Ostrer H
Department of Biochemistry and Molecular Biology, University of Florida, Gainesville 32610.
J Mol Evol. 1994 Jul;39(1):13-21. doi: 10.1007/BF00178245.
Nine newly described single-copy and low-copy-number genomic DNA sequences isolated from a flow-sorted human Y chromosome library were mapped to regions of the human Y chromosome and were hybridized to Southern blots of male and female great ape genomic DNAs (Gorilla gorilla, Pan troglodytes, Pongo pygmaeus). Eight of the nine sequences mapped to the euchromatic Y long arm (Yq) in humans, and the ninth mapped to the short arm or pericentromeric region. All nine of the newly identified sequences and two additional human Yq sequences hybridized to restriction fragments in male but not female genomic DNA from the great apes, indicating Y chromosome localization. Seven of these 11 human Yq sequences hybridized to similarly-sized restriction endonuclease fragments in all the great ape species analyzed. The five human sequences that mapped to the most distal subregion of Yq (deletion of which region is associated with spermatogenic failure in humans) were hybridized to Southern blots generated by pulsed-field gel electrophoresis. These sequences define a region of approximately 1 Mb on human Yq in which HpaII tiny fragment (HTF) islands appear to be absent. The conservation of these human Yq sequences on great ape Y chromosomes indicates a greater stability in this region of the Y than has been previously described for most anonymous human Y chromosomal sequences. The stability of these sequences on great ape Y chromosomes seems remarkable given that this region of the Y does not undergo meiotic recombination and the sequences do not appear to encode genes for which positive selection might occur.
从经流式细胞仪分选的人类Y染色体文库中分离出的9个新描述的单拷贝和低拷贝数基因组DNA序列，被定位到人类Y染色体的区域，并与雄性和雌性大猩猩（大猩猩、黑猩猩、猩猩）基因组DNA的Southern印迹杂交。这9个序列中的8个定位到人类Y染色体的常染色质长臂（Yq），第9个定位到短臂或着丝粒周围区域。所有9个新鉴定的序列以及另外两个人类Yq序列与大猩猩雄性而非雌性基因组DNA中的限制性片段杂交，表明其定位于Y染色体。在所有分析的大猩猩物种中，这11个人类Yq序列中的7个与大小相似的限制性内切酶片段杂交。定位到Yq最远端亚区域（该区域的缺失与人类生精失败相关）的5个人类序列与脉冲场凝胶电泳产生的Southern印迹杂交。这些序列在人类Yq上定义了一个约1 Mb的区域，其中HpaII微小片段（HTF）岛似乎不存在。这些人类Yq序列在大猩猩Y染色体上的保守性表明，Y染色体的该区域比大多数匿名人类Y染色体序列先前描述的具有更高稳定性。考虑到Y染色体的该区域不发生减数分裂重组且这些序列似乎不编码可能发生正选择的基因，这些序列在大猩猩Y染色体上的稳定性似乎很显著。
