Wong Z, Royle N J, Jeffreys A J
Department of Genetics, University of Leicester, United Kingdom.
Genomics. 1990 Jun;7(2):222-34. doi: 10.1016/0888-7543(90)90544-5.
A cloned minisatellite, termed lambda MS29, that is unusual because it detects two variable loci in human DNA has been isolated. One locus, DNF21S1, located in the terminal region of the short arm of human chromosome 6, is also present in great apes. The second minisatellite locus, DNF21S2, is located interstitially on chromosome 16p11 and is absent both from non-human primates and from some humans. Physical mapping and sequencing show that the second locus has arisen recently in evolution by duplication of a large (greater than 15 kb) segment of chromosome 6 DNA containing a minisatellite and transposition onto chromosome 16 into a member of a novel low-copy-number repetitive DNA family. This unusual duplication/transposition event appears to represent the first example of a human DNA polymorphism arising through DNA-mediated, rather than RNA-mediated, transfer between autosomes.
已分离出一个克隆的小卫星，称为λMS29，它不同寻常之处在于能检测人类DNA中的两个可变位点。其中一个位点DNF21S1位于人类6号染色体短臂的末端区域，在大猩猩中也存在。第二个小卫星位点DNF21S2位于16号染色体p11的中间位置，在非人类灵长类动物和一些人类中都不存在。物理图谱绘制和测序表明，第二个位点是在进化过程中最近通过复制一段包含小卫星的6号染色体DNA大片段（大于15 kb）并转座到16号染色体上一个新的低拷贝数重复DNA家族成员中而产生的。这种不寻常的复制/转座事件似乎代表了通过常染色体之间DNA介导而非RNA介导的转移产生人类DNA多态性的首个例子。
