This gene accounts for the size of the human brain and potentially our superior cognitive abilities
Scientists at A*STAR's Institute of Medical Biology (IMB) and Institute of Molecular and Cellular Biology (IMCB) have identified a genetic pathway that accounts for the extraordinary size of the human brain. The team led by Dr Bruno Reversade from A*STAR in Singapore, together with collaborators from Harvard Medical School, have identified a gene, KATNB1, as an essential component in a genetic pathway responsible for central nervous system development in humans and other animals.
By sequencing the genome of individuals of normal height but with a very small head size, the international team revealed that these individuals had mutations in the KATNB1 gene, indicating that this gene is important for proper human brain development. Microcephaly (literally meaning "small head" in Latin) is a condition often associated with neurodevelopmental disorders. Measured at birth by calculating the baby's head circumference, a diagnosis of microcephaly is given if it is smaller than average.
Microcephaly may stem from a variety of conditions that cause abnormal growth of the brain during gestation or degenerative processes after birth, all resulting in a small head circumference. In general, individuals with microcephaly have a reduced life expectancy due to reduced brain function which is often associated with mental retardation.
The team also carried out further experiments to determine the function of KATNB1, whose exact mode of action was previously unknown in humans. Using organisms specifically designed to lack this gene, they realised that KATNB1 is crucial for the brain to reach its correct size. Zebrafish and mice embryos without this gene could not live past a certain stage and showed dramatic reduction in brain and head size, similar to the human patients. Their results were published in the 17 December 2014 online issue of Neuron, the most influential journal in the field of Neuroscience.
Sequencing and screening for this particular gene before birth or at birth might also help to detect future neurocognitive problems in the general population. Dr Reversade said, "We will continue to search for other genes important for brain development as they may unlock some of the secrets explaining how we, humans, have evolved such cognitive abilities."
Prof Birgit Lane, Executive Director of IMB, said, "This is one of a small number of genes that scientists have found to be vital for brain development. The work is therefore an important advance in understanding the human brain. The team's findings provide a new platform from which to look further into whether - and how - this gene can be used for targeted therapeutic applications."
Prof Hong Wanjin, Executive Director of IMCB, said, "This coordinated effort shows the increasingly collaborative nature of science. As the complexity and interdisciplinary nature of research evolves, so do the networks of collaborations between research institutes at A*STAR and across continents."
###
Notes for Editor:
Link:
A*STAR scientists discover gene critical for proper brain development
- IOM not webcast today. Why Not? - November 8th, 2009 [November 8th, 2009]
- National Academies skeptical at Best. - November 8th, 2009 [November 8th, 2009]
- Some Confusion Exists - November 8th, 2009 [November 8th, 2009]
- Why DTC Genomics IS Medicine. - November 8th, 2009 [November 8th, 2009]
- First Mari, Now Linda. Who's next? - November 8th, 2009 [November 8th, 2009]
- Is it true? - November 8th, 2009 [November 8th, 2009]
- Re-Reviewing the National Academies - November 8th, 2009 [November 8th, 2009]
- The problem with nonclinicians....... - November 8th, 2009 [November 8th, 2009]
- Crazy Night of Emails to Government - November 8th, 2009 [November 8th, 2009]
- Adrienne Carlson's Personalized Medicine. - November 8th, 2009 [November 8th, 2009]
- Tell Me, How do you feel now? Sherpa's RX - November 8th, 2009 [November 8th, 2009]
- This Just In. 23andMe to go to GPs. I love my readers!! - November 8th, 2009 [November 8th, 2009]
- Sorry so long away - November 8th, 2009 [November 8th, 2009]
- 2D6 Rears its ugly head..... - November 8th, 2009 [November 8th, 2009]
- Ok, Fine, Back to Plavix - November 8th, 2009 [November 8th, 2009]
- Kaiser a protoype for Collins' Aim - November 8th, 2009 [November 8th, 2009]
- A few months late to the party.... - November 8th, 2009 [November 8th, 2009]
- Stated Another Way....... - November 8th, 2009 [November 8th, 2009]
- Excuse Me? Harvard and Navigenics? WTF? - November 8th, 2009 [November 8th, 2009]
- Follow up to Yesterday's WTF? Harvard, Navi? and Pfizer??? - November 8th, 2009 [November 8th, 2009]
- Did you get your kit? Thanks Dr. Rob from MedCo - November 8th, 2009 [November 8th, 2009]
- Gluco...Wha? Parkinson's Disease and Glucocerebrosidase mutations. - November 8th, 2009 [November 8th, 2009]
- Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next! - November 8th, 2009 [November 8th, 2009]
- Change IS Needed. I agree with William, sometimes. - November 8th, 2009 [November 8th, 2009]
- Good Enough Science? Apparently so at 23andme - November 8th, 2009 [November 8th, 2009]
- Long QT Syndrome, location matters - December 13th, 2009 [December 13th, 2009]
- Congratulations Generation Health. Nice pick up! - December 13th, 2009 [December 13th, 2009]
- An argument 23andSerge can't win...23andme but not medicine - December 13th, 2009 [December 13th, 2009]
- Stop. Breathe. Repeat. An analysis of the direction of DTC Genomics Field. - December 13th, 2009 [December 13th, 2009]
- Hey DTC genomics, Stay Private, Stay Alive, Go Public and Die - December 13th, 2009 [December 13th, 2009]
- You can't have it both way. Either scared your genome is sold off or not. - December 13th, 2009 [December 13th, 2009]
- 15 Days Away Gives Time for Perspective. - December 13th, 2009 [December 13th, 2009]
- What about the SACGHS registry? Another missed opportunity? - December 13th, 2009 [December 13th, 2009]
- AJHG is in and my Favorite Muin is in it! But He Is NOT the Father! - December 13th, 2009 [December 13th, 2009]
- Navigenics for 23andMe prices? - December 18th, 2009 [December 18th, 2009]
- Lp(a) Maybe there's something there that wasn't there before? - December 24th, 2009 [December 24th, 2009]
- Another Year, Another Bankruptcy - December 31st, 2009 [December 31st, 2009]
- 5 Technologies going bye bye in this decade? - January 6th, 2010 [January 6th, 2010]
- Hackers, HITECH and HIPAA in DTC Genomics, Oh My! - January 7th, 2010 [January 7th, 2010]
- Personal Genomics Flop.....big Belly Flop! - January 8th, 2010 [January 8th, 2010]
- Gotta Love It. Even the daycare....... - January 11th, 2010 [January 11th, 2010]
- Congratulations Navigenics. You ARE a clinical lab! Uh-Oh... - January 12th, 2010 [January 12th, 2010]
- CETP, Jewish Centenarians and Alzheimers - January 14th, 2010 [January 14th, 2010]
- Enter the "Not" DTC Genomics Rep - January 17th, 2010 [January 17th, 2010]
- Why Dr. Vanier's Navigenics appointment is good for PM - January 22nd, 2010 [January 22nd, 2010]
- Holy Crap! MedCo Follows in CVS footsteps - February 3rd, 2010 [February 3rd, 2010]
- FDA, Warfarin, still not as sexy to me. - February 5th, 2010 [February 5th, 2010]
- Hype, Hype, Hype from a single study. - February 11th, 2010 [February 11th, 2010]
- I love my readers, even Renata M! - February 17th, 2010 [February 17th, 2010]
- How can insurers use DTC genomics to profile? - February 17th, 2010 [February 17th, 2010]
- 9p21.....ahem. Paynter et.al. Smackdown. Again. - February 18th, 2010 [February 18th, 2010]
- Hey! It's Pete Hulick! Are you Going to GET? - February 19th, 2010 [February 19th, 2010]
- I was wrong......AHEM - February 28th, 2010 [February 28th, 2010]
- G2C2, finally a tool for genomic education! - March 2nd, 2010 [March 2nd, 2010]
- Just 4 million? What 23andMe is worth. - March 5th, 2010 [March 5th, 2010]
- What a difference a year makes - March 9th, 2010 [March 9th, 2010]
- ........DTC Genomic Medicine? - March 12th, 2010 [March 12th, 2010]
- The FDA, 2c19 and the ACC - March 13th, 2010 [March 13th, 2010]
- The problem with Comparative Whole Genomics...... - March 13th, 2010 [March 13th, 2010]
- BRCA testing by 23andME is the same as Myriad Genetics. - March 15th, 2010 [March 15th, 2010]
- The Argument Against DTC Genomics Marketing and such - March 16th, 2010 [March 16th, 2010]
- A moment of Clarity. Some DTCG is not bad. - March 18th, 2010 [March 18th, 2010]
- SNPs for breast cancer risk? It Depends. - March 18th, 2010 [March 18th, 2010]
- How can MDVIP use Navigenics Test for Medicine? - March 18th, 2010 [March 18th, 2010]
- Why did P&G invest in Navigenics? - March 23rd, 2010 [March 23rd, 2010]
- PGx in DTCG? Doesn't stand up to Useful testing. - March 25th, 2010 [March 25th, 2010]
- End of Gene Patents? - March 29th, 2010 [March 29th, 2010]
- Sherpa Accepting Chief Medical Officership - April 3rd, 2010 [April 3rd, 2010]
- The Rumors of My Death........ - April 20th, 2010 [April 20th, 2010]
- Happy DNA Day! - April 25th, 2010 [April 25th, 2010]
- 99 USD, DNA day and patient letters - April 25th, 2010 [April 25th, 2010]
- 2C19, Navigenics and Clinical Reality. - May 1st, 2010 [May 1st, 2010]
- Coriell Personalized Medicine Collaborative rising - May 7th, 2010 [May 7th, 2010]
- Personal Genomes in Clinical Care. Quake paper is a waste! - May 11th, 2010 [May 11th, 2010]
- Personal Genomes in Clinical Care. Quake paper Falls Short! - May 13th, 2010 [May 13th, 2010]
- Last post edited by Drew - May 13th, 2010 [May 13th, 2010]
- GateKeeper? FCUK U! - May 13th, 2010 [May 13th, 2010]
- GateKeeper? F! U! - May 15th, 2010 [May 15th, 2010]
- Potential of genomic medicine, LOST - May 19th, 2010 [May 19th, 2010]
- How Bad Can a House Investigation be for DTC Genomics? - May 20th, 2010 [May 20th, 2010]