Navigation Links
Tiny variation in 1 gene may have led to crucial changes in human brain
Date:5/15/2011

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
william.hathaway@yale.edu
203-432-1322
Yale University
Source:Eurekalert  

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:
*Name:
*Comment:
*Email:
Related Image:
Tiny variation in 1 gene may have led to crucial changes in human brain
(Date:4/4/2017)... --  EyeLock LLC , a leader of iris-based identity ... and Trademark Office (USPTO) has issued U.S. Patent No. ... iris image with a face image acquired in sequence ... th issued patent. "The issuance ... multi-modal biometric capabilities that have recently come to market ...
(Date:3/30/2017)... , March 30, 2017 Trends, opportunities ... (physiological and behavioral), by technology (fingerprint, AFIS, iris recognition, ... recognition, and others), by end use industry (government and ... immigration, financial and banking, and others), and by region ... , Asia Pacific , and ...
(Date:3/24/2017)... The Controller General of Immigration from Maldives Mr. ... have received the prestigious international IAIR Award for the most innovative ... ... Maldives Immigration ... Algeen (small picture on the right) have received the IAIR award for ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... 11, 2017  VMS BioMarketing, a leading provider of patient ... Clinical Nurse Educator (CNE) network, which will launch this week. ... among health care professionals to enhance the patient care experience ... and other health care professionals to help women who have ... ...
(Date:10/11/2017)... ... October 11, 2017 , ... A new study published ... frozen and fresh in vitro fertilization (IVF) transfer cycles. The multi-center ... success. , After comparing the results from the fresh and frozen transfer cohorts, ...
(Date:10/10/2017)... , ... October 10, 2017 ... ... cancer-focused pharmaceutical company advancing targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing ... HPLN (Hybrid Polymerized Liposomal Nanoparticle), a technology developed in collaboration with Children’s ...
(Date:10/10/2017)... DALLAS , Oct. 10, 2017 International research firm ... IoT Strategy, will speak at the TMA 2017 Annual Meeting , ... key trends in the residential home security market and how smart safety ... ... "The ...
Breaking Biology Technology: