Gosden J R, Gosden C, Lawrie S, Mitchell A R
Hum Genet. 1978 Mar 17;41(2):131-41. doi: 10.1007/BF00273095.
In a family with a stable dicentric 13:14 translocation chromosome, the distribution of DNA sequences complementary to satellite DNAs I, II and III and ribosomal RNA were studied. The translocation chromosome showed a loss of sequences complementary to all three satellite DNAs, located in the short arms of the acrocentric chromosomes, but slightly more of the sequences complementary to satellite I were retained than of the other two satellite DNAs. The fact that material was lost from all three satellites indicates that they are not present as single discrete blocks in these chromosomes, when we would expect to find the distal sequences lost and the proximal ones retained, but consist of interspersed blocks with each sequence represented by more than one, and probably several blocks. There was a total loss of ribosomal DNA from the nucleolar organiser regions of the chromosomes involved in the 13:14 translocation, but an interesting finding was the presence of extra ribosomal DNA and satellite DNAs I, II and III in one chromosome 22 which was found in seven out of nine individuals of the family with the 13:14 translocation, and in only one of five individuals without the translocation. There may be a compensatory mechanism present when certain sequences are elminated during chromosomal rearrangements. The relationship of such mechanisms to reproductive fitness is discussed.
在一个具有稳定的13:14双着丝粒易位染色体的家族中,研究了与卫星DNA I、II和III以及核糖体RNA互补的DNA序列的分布。易位染色体显示出与所有三种卫星DNA互补的序列丢失,这些卫星DNA位于近端着丝粒染色体的短臂上,但与卫星I互补的序列保留得比其他两种卫星DNA略多。所有三种卫星都有物质丢失这一事实表明,它们在这些染色体中并非以单个离散块的形式存在,因为我们原本预期会发现远端序列丢失而近端序列保留,而是由散布的块组成,每个序列由不止一个,可能是几个块代表。参与13:14易位的染色体的核仁组织区的核糖体DNA完全丢失,但一个有趣的发现是,在一个22号染色体上存在额外的核糖体DNA以及卫星DNA I、II和III,在具有13:14易位的家族的9个个体中有7个发现了这种情况,而在5个没有易位的个体中只有1个发现。当某些序列在染色体重排过程中被消除时,可能存在一种补偿机制。讨论了这种机制与生殖适应性的关系。