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:12/7/2016)... 7, 2016   Avanade is helping Williams ... teams in history, exploit biometric data in order to ... maintain the competitive edge against their rivals after their ... Avanade has worked with Williams during the 2016 ... data (heart rate, breathing rate, temperature and peak acceleration) ...
(Date:12/6/2016)... , Dec. 6, 2016 Securus ... justice technology solutions for public safety, investigation, corrections ... jointly announced today a five (5) year funding ... agreement to expand the rehabilitation and reentry support ... PEP History Established in 2004, the Prison Entrepreneurship ...
(Date:11/30/2016)... , Nov. 30, 2016 Not many of us realize that we spend ... recovery so we need to do it well. Inadequate sleep levels have been found ... pressure, stroke, diabetes, and even cancer. Maybe now is the best time ... could help them to manage their sleep quality? Continue ... ...
Breaking Biology News(10 mins):
(Date:12/8/2016)... SAN DIEGO , Dec. 8, 2016 /PRNewswire/ ... presented demonstrating the role of the Breast Cancer ... stage, ER+ breast cancer are most at-risk for ... therapy. Data include results from three studies advancing ... provide information related to tumor biology and inform ...
(Date:12/8/2016)... ... December 08, 2016 , ... ... SDK that provide essential device-to-computer interconnect using USB or PCI Express, announced the ... support. The FOMD-ACV-A4 is a small, thin, SODIMM-style module that fits a standard ...
(Date:12/8/2016)... (PRWEB) , ... December 08, 2016 , ... ... data bioInformatics portal. In response to client demand KbioBox developed a sophisticated “3 ... biodesign program. Both are accessible from KBioBox’s new website, https://www.kbiobox.com/ ...
(Date:12/8/2016)... N.J. , Dec. 8, 2016  Soligenix, ... late-stage biopharmaceutical company focused on developing and commercializing ... an unmet medical need, announced today the long-term ... with SGX942 (dusquetide), a first-in-class Innate Defense Regulator ... in head and neck cancer patients undergoing chemoradiation ...
Breaking Biology Technology: