Kim Taehyun, Bershteyn Marina, Wynshaw-Boris Anthony
a Department of Genetics and Genome Sciences; School of Medicine; Case Western Reserve University School of Medicine; Cleveland, OH USA.
Nucleus. 2014 Sep-Oct;5(5):391-5. doi: 10.4161/nucl.36300.
The fusion of the short (p) and long (q) arms of a chromosome is referred to as a "ring chromosome." Ring chromosome disorders occur in approximately 1 in 50,000-100,000 patients. Ring chromosomes can result in birth defects, mental disabilities, and growth retardation if additional genes are deleted during the formation of the ring. Due to the severity of these large-scale aberrations affecting multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have so far been proposed. Our recent study (Bershteyn et al.) using patient-derived fibroblast lines containing ring chromosomes, found that cellular reprogramming of these fibroblasts into induced pluripotent stem cells (iPSCs) resulted in the cell-autonomous correction of the ring chromosomal aberration via compensatory uniparental disomy (UPD). These observations have important implications for studying the mechanism of chromosomal number control and may lead to the development of effective therapies for other, more common, chromosomal aberrations.
染色体短臂（p）和长臂（q）的融合被称为“环状染色体”。环状染色体疾病在大约每50000 - 100000名患者中出现1例。如果在环状染色体形成过程中额外的基因被删除，环状染色体可导致出生缺陷、智力残疾和生长发育迟缓。由于这些影响多个相邻基因的大规模畸变的严重性，迄今为止尚未提出针对环状染色体疾病的可能治疗策略。我们最近的研究（Bershteyn等人）使用含有环状染色体的患者来源的成纤维细胞系，发现将这些成纤维细胞重编程为诱导多能干细胞（iPSC）可通过补偿性单亲二体性（UPD）实现环状染色体畸变的细胞自主校正。这些观察结果对于研究染色体数目控制机制具有重要意义，并可能导致开发针对其他更常见染色体畸变的有效疗法。
