Navigation Links
Tiny variation in 1 gene may have led to crucial changes in human brain

The human brain has yet to explain the origin of one its defining features the deep fissures and convolutions that increase its surface area and allow for rational and abstract thoughts.

An international collaboration of scientists from the Yale School of Medicine and Turkey may have discovered humanity's beneficiary a tiny variation within a single gene that determines the formation of brain convolutions they report online May 15 in the journal Nature Genetics.

A genetic analysis of a Turkish patient whose brain lacks the characteristic convolutions in part of his cerebral cortex revealed that the deformity was caused by the deletion of two genetic letters from 3 billion in the human genetic alphabet. Similar variations of the same gene, called laminin gamma3 (LAMC3), were discovered in two other patients with similar abnormalities.

"The demonstration of the fundamental role of this gene in human brain development affords us a step closer to solve the mystery of the crown jewel of creation, the cerebral cortex," said Murat Gunel, senior author of the paper and the Nixdorff-German Professor of Neurosurgery, co-director of the Neurogenetics Program and professor of genetics and neurobiology at Yale.

The folding of the brain is seen only in mammals with larger brains, such as dolphins and apes, and is most pronounced in humans. These fissures expand the surface area of the cerebral cortex and allow for complex thought and reasoning without taking up more space in the skull. Such foldings aren't seen in mammals such as rodents or other animals. Despite the importance of these foldings, no one has been able to explain how the brain manages to create them. The LAMC3 gene involved in cell adhesion that plays a key role in embryonic development may be crucial to the process.

An analysis of the gene shows that it is expressed during the embryonic period that is vital to the formation of dendrites, which form synapses or connections between brain cells. "Although the same gene is present in lower organisms with smooth brains such as mice, somehow over time, it has evolved to gain novel functions that are fundamental for human occipital cortex formation and its mutation leads to the loss of surface convolutions, a hallmark of the human brain," Gunel said.


Contact: Bill Hathaway
Yale University

Related biology news :

1. Climbers leave rare plants genetic variation on the rocks
2. Arctic climate variation under ancient greenhouse conditions
3. DNA sequence variations linked to electrical signal conduction in the heart
4. Shifting forms: Penn study shows how variations of same protein affect immune response
5. Gene variations that alter key enzyme linked to prostate cancer
6. Third generation map of human genetic variation published
7. UCLA study identifies genetic variation linked to lupus in Asian men
8. Rare and common genetic variations responsible for high triglyceride levels in blood
9. Powerful genome barcoding system reveals large-scale variation in human DNA
10. Variations on the genetic theme
11. Intentional variation increases result validity in mouse testing
Post Your Comments:
Related Image:
Tiny variation in 1 gene may have led to crucial changes in human brain
(Date:10/29/2015)...  The J. Craig Venter Institute (JCVI) policy group ... Biosecurity: Lessons Learned and Options for the Future," which ... Services guidance for synthetic biology providers has worked since ... --> --> Synthetic biology promises great ... pose unique biosecurity threats. It now is easier than ...
(Date:10/29/2015)... Oct. 29, 2015 Today, LifeBEAM ... partnership with 2XU, a global leader in technical ... smart hat with advanced bio-sensing technology. The hat ... to monitor key biometrics to improve overall training ... the two companies will bring together the most advanced ...
(Date:10/26/2015)... and LAS VEGAS , ... Nok Labs , an innovator in modern authentication and ... today announced the launch of its latest version of ... platform enabling organizations to use standards-based authentication that supports ... Nok S3 Authentication Suite is ideal for organizations deploying ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... Nov. 24, 2015  Twist Bioscience, a company ... Leproust, Ph.D., Twist Bioscience chief executive officer, will ... on December 1, 2015 at 3:10 p.m. Eastern ... City. --> --> ... Twist Bioscience is on Twitter. Sign up to ...
(Date:11/24/2015)... ... 24, 2015 , ... InSphero AG, the leading supplier of easy-to-use solutions for ... Aregger to serve as Chief Operating Officer. , Having joined InSphero in ... and was promoted to Head of InSphero Diagnostics in 2014. There she ...
(Date:11/24/2015)... /CNW Telbec/ - ProMetic Life Sciences Inc. (TSX: PLI) (OTCQX: ... Pierre Laurin , President and Chief Executive Officer of ProMetic, ... Jaffray 27 th Annual Healthcare Conference to be held ... st , at 8.50am (ET) and ProMetic,s ... day. The presentation will be available live via a webcast ...
(Date:11/24/2015)... CHARLOTTESVILLE, Va. , Nov. 24, 2015 /PRNewswire/ ... company focused on discovering drugs for metabolic disorders, ... Watkins to its Board of Directors (BOD). ... executive officer of Human Genome Sciences (HGS), and ... Industry Organization. Jim Powers , Chairman ...
Breaking Biology Technology: