Navigation Links
Gene mutation linked to cognition is found only in humans

The human and chimpanzee genomes vary by just 1.2 percent, yet there is a considerable difference in the mental and linguistic capabilities between the two species. A new study showed that a certain form of neuropsin, a protein that plays a role in learning and memory, is expressed only in the central nervous systems of humans and that it originated less than 5 million years ago. The study, which also demonstrated the molecular mechanism that creates this novel protein, will be published online in Human Mutation, the official journal of the Human Genome Variation Society. The journal is available online via Wiley InterScience at

Led by Dr. Bing Su of the Chinese Academy of Sciences in Kunming, China, researchers analyzed the DNA of humans and several species of apes and monkeys. Their previous work had shown that type II neuropsin, a longer form of the protein, is not expressed in the prefrontal cortex (PFC) of lesser apes and Old World monkeys. In the current study, they tested the expression of type II in the PFC of two great ape species, chimpanzees and orangutans, and found that it was not present. Since these two species diverged most recently from human ancestors (about 5 and 14 million years ago respectively), this finding demonstrates that type II is a human-specific form that originated relatively recently, less than 5 million years ago.

Gene sequencing revealed a mutation specific to humans that triggers a change in the splicing pattern of the neuropsin gene, creating a new splicing site and a longer protein. Introducing this mutation into chimpanzee DNA resulted in the creation of type II neuropsin. "Hence, the human-specific mutation is not only necessary but also sufficient in creating the novel splice form," the authors state.

The results also showed a weakening effect of a different, type I-specif ic splicing site and a significant reduction in type I neuropsin expression in human and chimpanzee when compared with the rhesus macaque, an Old World monkey. This pattern suggests that before the emergence of the type II splice form in human, the weakening of the type I splicing site already existed in the common ancestor of humans and chimpanzees, implying a multi-step process that led to the dramatic change of splicing pattern in humans, the authors note. They identified a region of the chimpanzee sequence that has a weakening effect on the splicing site that also probably applies to humans. "It is likely that both the creation of novel splice form and the weakening of the constitutive splicing contribute to the splicing pattern changes during primate evolution, suggesting a multi-step process eventually leading to the origin of the type II form in human," the authors state.

They note that further studies should probe the biological function of type II neuropsin in humans, as the extra 45 amino acids in this form may cause protein structural and functional changes. They note that in order to understand the genetic basis that underlies the traits that set humans apart from nonhuman primates, recent studies have focused on identifying genes that have been positively selected during human evolution. They conclude, "The present results underscore the potential importance of the creation of novel splicing forms in the central nervous system in the emergence of human cognition."

Source:John Wiley & Sons, Inc.

Related biology news :

1. Novel technology detects human DNA mutations
2. Fox Chase Cancer Center scientists identify immune-system mutation
3. Mitochondrial DNA mutations play significant role in prostate cancer
4. Same mutation aided evolution in many fish species, Stanford study finds
5. Bioelectronic ‘signatures?hold key to DNA mutations
6. Sugar beet virus mutation requires Texas touch
7. Multi-species genome comparison sheds new light on evolutionary processes, cancer mutations
8. Treatments have same target, different responses for lung cancer patients with genetic mutation
9. Newly recognized gene mutation may reduce seeds, resurrect plants
10. DNA size a crucial factor in genetic mutations, study finds
11. Gene therapy reverses genetic mutation responsible for heart failure in muscular dystrophy

Post Your Comments:

(Date:6/22/2016)...  The American College of Medical Genetics and Genomics was ... as one of the fastest-growing trade shows during the Fastest ... in Las Vegas . ... in each of the following categories: net square feet of ... attendees. The 2015 ACMG Annual Meeting was ranked 23 out ...
(Date:6/16/2016)... SAN FRANCISCO , June 16, 2016 /PRNewswire/ ... Market size is expected to reach USD ... report by Grand View Research, Inc. Technological proliferation ... and banking applications are expected to drive the ... ) , The development of ...
(Date:6/3/2016)... 3, 2016 Das ... Nepal hat ein 44 ... geprägter Kennzeichen, einschließlich Personalisierung, Registrierung und IT-Infrastruktur, ... Produktion und Implementierung von Identitätsmanagementlösungen. Zahlreiche renommierte ... Januar teilgenommen, aber Decatur wurde als konformste ...
Breaking Biology News(10 mins):
(Date:6/27/2016)...  Sequenom, Inc. (NASDAQ: SQNM ), a ... the development of innovative products and services, announced today ... States denied its petition to review decisions ... U.S. Patent No. 6,258,540 (",540 Patent") are not patent ... Supreme Court,s Mayo Collaborative Services v. Prometheus Laboratories decision.  ...
(Date:6/27/2016)... ... June 27, 2016 , ... Rolf K. Hoffmann, ... faculty of the University of North Carolina Kenan-Flagler Business School effective ... at UNC Kenan-Flagler, with a focus on the school’s international efforts, leading classes ...
(Date:6/24/2016)... DIEGO , June 24, 2016 ... more sensitively detects cancers susceptible to PARP inhibitors ... circulating tumor cells (CTCs). The new test has ... HRD-targeted therapeutics in multiple cancer types. ... targeting DNA damage response pathways, including PARP, ATM, ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... announce the launch of their brand, UP4™ Probiotics, into Target stores nationwide. The ... is proud to add Target to its list of well-respected retailers. This list ...
Breaking Biology Technology: