Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
Genome Med. 2010 Apr 30;2(4):29. doi: 10.1186/gm150.
Among the various sequence repeats that shape the human genome, trinucleotide repeats have attracted special interest as a result of their involvement in a class of human genetic disorders known as triplet repeat expansion diseases. Recently, long TGG repeat tracts were shown to be implicated in a genomic disorder resulting from chromosome 14q32.2 deletion. Various different mechanisms might trigger this deletion, and looking at the problem from a structural biology perspective may help. Deeper insight into repeated sequences and their features may shed light on the mechanisms involved in this microdeletion and similar genomic rearrangements.
在塑造人类基因组的各种序列重复中,三核苷酸重复由于涉及一类称为三核苷酸重复扩展疾病的人类遗传疾病而引起了特别关注。最近,人们发现长 TGG 重复片段与染色体 14q32.2 缺失引起的基因组疾病有关。这种缺失可能由各种不同的机制触发,从结构生物学的角度来看待这个问题可能会有所帮助。深入了解重复序列及其特征可能有助于阐明这种微缺失和类似基因组重排的机制。