Department of Biological Sciences, Florida State University, King Life Science Building, Tallahassee, FL 32306-4295, USA.
BMC Genomics. 2010 Nov 15;11:632. doi: 10.1186/1471-2164-11-632.
Macrosatellites are some of the largest variable number tandem repeats in the human genome, but what role these unusual sequences perform is unknown. Their importance to human health is clearly demonstrated by the 4q35 macrosatellite D4Z4 that is associated with the onset of the muscle degenerative disease facioscapulohumeral muscular dystrophy. Nevertheless, many other macrosatellite arrays in the human genome remain poorly characterized.
Here we describe the organization, tandem repeat copy number variation, transmission stability and expression of four macrosatellite arrays in the human genome: the TAF11-Like array located on chromosomes 5p15.1, the SST1 arrays on 4q28.3 and 19q13.12, the PRR20 array located on chromosome 13q21.1, and the ZAV array at 9q32. All are polymorphic macrosatellite arrays that at least for TAF11-Like and SST1 show evidence of meiotic instability. With the exception of the SST1 array that is ubiquitously expressed, all are expressed at high levels in the testis and to a lesser extent in the brain.
Our results extend the number of characterized macrosatellite arrays in the human genome and provide the foundation for formulation of hypotheses to begin assessing their functional role in the human genome.
微卫星是人类基因组中最大的可变串联重复序列之一，但这些不寻常序列的作用尚不清楚。4q35 微卫星 D4Z4 与肌肉退行性疾病面肩肱型肌营养不良的发病有关，清楚地表明了它们对人类健康的重要性。然而，人类基因组中的许多其他微卫星阵列仍未得到很好的描述。
在这里，我们描述了人类基因组中四个微卫星阵列的组织、串联重复拷贝数变异、传递稳定性和表达：位于 5p15.1 染色体上的 TAF11 样阵列、位于 4q28.3 和 19q13.12 上的 SST1 阵列、位于 13q21.1 上的 PRR20 阵列，以及位于 9q32 的 ZAV 阵列。所有这些都是多态性微卫星阵列，至少 TAF11 样和 SST1 阵列显示出减数分裂不稳定的证据。除了广泛表达的 SST1 阵列外，所有这些阵列在睾丸中高水平表达，在大脑中则表达水平较低。
我们的研究结果扩展了人类基因组中已被描述的微卫星阵列的数量，并为制定假设开始评估它们在人类基因组中的功能作用提供了基础。
