康奈尔大学研究人员首次发现,一个名为BC200的人类基因在保留神经元功能的同时,仍然保持着在基因组中移动的能力。1这个基因数百万年前由转座子(跳跃基因)演化而来,但与大多数同类基因不同,它从未丧失这种移动特性。1研究团队在痘病毒内也发现了BC200基因的存在,表明该基因可能从被感染的皮肤细胞跳入病毒。1
BC200基因主要在神经元中表达,仅在人类和近缘灵长类动物中被发现。1研究显示,BC200在生殖细胞(精子和卵子)中有低水平表达,可能通过遗传传给后代。1此外,该基因在某些肿瘤中异常表达,在阿尔茨海默病患者的脑部水平升高。1这项研究成果已发表于2026年9月24日的《科学》杂志第393卷第6818期。1
Researchers at Cornell University have identified a human brain gene called BC200 that maintains the ability to move through the genome, a trait typically lost over millions of years of evolution 1. The gene, which originated from transposable elements—DNA sequences capable of relocating within the genome—has retained this mobility despite its evolution into a functional neuronal gene 1. This discovery, published on September 24, 2026, in Science magazine (Volume 393, Issue 6818, DOI: 10.1126/science.aeh3441), reveals an unusual exception in how genes derived from transposons typically become inactive over time 1.
BC200 is primarily expressed in neurons but displays transposable element characteristics that allow it to shift positions within DNA 1. Notably, the gene is found exclusively in humans and closely related primates 1. In a striking finding, the research team led by Cedric Feschotte discovered BC200 sequences within poxviruses, suggesting the gene may have jumped from infected skin cells into viral genomes 1. The gene also shows low-level expression in reproductive cells—sperm and eggs—potentially allowing it to be inherited by offspring 1. While BC200's specific function remains an active area of study, researchers have observed abnormal expression patterns of this gene in certain tumors and elevated levels in the brains of Alzheimer's disease patients 1.
Human DNA composition reflects this broader phenomenon: approximately 50 percent of the human genome consists of DNA derived from transposable elements 1. The persistence of BC200's jumping capability marks an exceptional case in this genetic landscape 1.
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