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:4/11/2017)... 2017 No two people are believed ... New York University Tandon School of Engineering and ... that partial similarities between prints are common enough ... phones and other electronic devices can be more ... lies in the fact that fingerprint-based authentication systems ...
(Date:4/5/2017)... KEY FINDINGS The global market for stem ... 25.76% during the forecast period of 2017-2025. The rise ... growth of the stem cell market. Download ... The global stem cell market is segmented on the ... cell market of the product is segmented into adult ...
(Date:3/30/2017)... 2017 Trends, opportunities and forecast in this ... technology (fingerprint, AFIS, iris recognition, facial recognition, hand geometry, ... end use industry (government and law enforcement, commercial and ... and others), and by region ( North America ... Asia Pacific , and the Rest of the ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... DuPont Pioneer and ... they have entered into a multiyear collaboration to identify and characterize novel CRISPR-Cas ... tools for gene editing across all applications. , Under the terms of the ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... pharmaceutical and biotechnology industries to improve patient outcomes and quality of life, will ... analytical testing are being attributed to new regulatory requirements for all new drug ...
(Date:10/11/2017)... ... October 11, 2017 , ... The CRISPR-Cas9 ... overexpression experiments and avoiding the use of exogenous expression plasmids. The simplicity of ... performing systematic gain-of-function studies. , This complement to loss-of-function studies, such as ...
(Date:10/11/2017)... BALTIMORE, Md. (PRWEB) , ... October 11, 2017 ... ... for digital pathology, announced today it will be hosting a Webinar titled, “Pathology ... of  Advanced Pathology Associates , on digital pathology adoption best practices and how ...
Breaking Biology Technology: