Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. | Zhang et al. Genome Biology 2010 11 R26 http 2010 11 3 R26 w Genome Biology RESEARCH Open Access Identification and analysis of unitary pseudogenes historic and contemporary gene losses in humans and other primates Zhengdong D Zhang1 Adam Frankish2 Toby Hunt2 Jennifer Harrow2 Mark Gerstein1 3 4 Abstract Background Unitary pseudogenes are a class of unprocessed pseudogenes without functioning counterparts in the genome. They constitute only a small fraction of annotated pseudogenes in the human genome. However as they represent distinct functional losses over time they shed light on the unique features of humans in primate evolution. Results We have developed a pipeline to detect human unitary pseudogenes through analyzing the global inventory of orthologs between the human genome and its mammalian relatives. We focus on gene losses along the human lineage after the divergence from rodents about 75 million years ago. In total we identify 76 unitary pseudogenes including previously annotated ones and many novel ones. By comparing each of these to its functioning ortholog in other mammals we can approximately date the creation of each unitary pseudogene that is the gene death date and show that for our group of 76 the functional genes appear to be disabled at a fairly uniform rate throughout primate evolution - not all at once correlated for instance with the Alu burst . Furthermore we identify 11 unitary pseudogenes that are polymorphic - that is they have both nonfunctional and functional alleles currently segregating in the human population. Comparing them with their orthologs in other primates we find that two of them are in fact pseudogenes in non-human primates suggesting that they represent cases of a gene being resurrected in the human lineage. Conclusions This analysis of unitary pseudogenes provides insights into the evolutionary constraints faced by different organisms and the timescales of functional gene loss in humans. Background .
