Weiss E, Golden L, Zakut R, Mellor A, Fahrner K, Kvist S, Flavell R A
Laboratory for Gene Structure and Expression, National Institute for Medical Research, MRC, London, UK.
EMBO J. 1983;2(3):453-62. doi: 10.1002/j.1460-2075.1983.tb01444.x.
We have determined the DNA sequence of the H-2Kb gene of the C57B1/10 mouse. Comparison of this sequence with that of the allelic H-2Kd shows surprisingly that the exons have accumulated more mutations than their introns. Moreover, many of these changes in the exons are clustered in short regions or hot spots. Additional comparison of these sequences with the H-2Ld and H-2Db sequences shows that, in several cases, the altered sequence generated at the hot spot is identical to the corresponding region of a non-allelic H-2 gene. The clustered changes are responsible for 60% of the amino acid differences between the H-2Kb and H-2Kd genes and suggest that micro-gene conversion events occurring within the exons and involving only tens of nucleotides are an important mechanism for the generation of polymorphic differences between natural H-2 alleles.
我们已经测定了C57B1/10小鼠H-2Kb基因的DNA序列。将该序列与等位基因H-2Kd的序列进行比较，结果令人惊讶地发现，外显子积累的突变比内含子更多。此外，外显子中的许多这些变化集中在短区域或热点区域。将这些序列与H-2Ld和H-2Db序列进行进一步比较表明，在几种情况下，热点区域产生的改变序列与非等位H-2基因的相应区域相同。这些聚集的变化导致了H-2Kb和H-2Kd基因之间60%的氨基酸差异，这表明外显子内发生的、仅涉及几十个核苷酸的微基因转换事件是天然H-2等位基因之间产生多态性差异的重要机制。
