Mefford Heather C, Eichler Evan E
Department of Pediatrics, University of Washington, Seattle, WA 98195, United States.
Curr Opin Genet Dev. 2009 Jun;19(3):196-204. doi: 10.1016/j.gde.2009.04.003. Epub 2009 May 22.
The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hotspots and their association with both syndromic and nonsyndromic diseases. Studies of common complex genetic disease show that a subset of these recurrent events plays an important role in autism, schizophrenia, and epilepsy. The genomic hotspot model may provide a powerful approach for understanding the role of rare variants in common disease.
人类基因组富含散在的节段性重复序列，这些重复序列使得约10%的基因组由于不等交换而易于发生反复的微缺失和微重复。我们综述了这些基因组热点区域内反复重排的最新发现及其与综合征性和非综合征性疾病的关联。常见复杂遗传疾病的研究表明，这些反复发生的事件中的一部分在自闭症、精神分裂症和癫痫中起重要作用。基因组热点模型可能为理解罕见变异在常见疾病中的作用提供一种有力的方法。
