This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Wednesday, November 28, 2018

First Genome-Wide Significant Loci Associated with ADHD Identified

this article published by the Guardian on Monday the 26th states that a major breakthrough has been made in regards to the genetic variants that increase the risk of ADHD. The original study The study the first genome-wide significant risk loci and indicates an important role for common variants in the polygenic architecture of ADHD. Future work is going to be needed to find the strong source of association in each loci, but this is a breakthrough nonetheless. In the past it was hard to really pinpoint any source of ADHD because many of the genes thought to be involved increased the risk by a small degree. This is the first time that genome wide significant loci associated with ADHD has been identified. Some of the revelations of the study were already predicted such as the association with ADHD and other neurological conditions such as insomnia to schizophrenia. So in a GWAS meta-analysis of over 55,000 individuals over 12 study cohorts they were able to identify 12 locus that could be deemed significant risk loci. The results of this study not only hope to shed light on the biological factors associated with ADHD and hopefully be able to develop new drugs for ADHD (which is largely trial and error) and to encourage a dimensional view of ADHD and some argue that this could help destigmatize it too.

Ritalin is used to treat ADHD. Scientists say their findings could potentially aid the development of new drugs.

Seeran Enayet

Wednesday, November 14, 2018

Did humans domesticate themselves?

This article presents new genetic evidence from a study showing that humans probably self-domesticated themselves to select for pro-social traits. The original journal article compared the genomes of anatomically modern humans to genomes of other domesticated species (i.e. cows and dogs) and their wild types (i.e. wolves and Neanderthals). It claims that AMH and domesticated species do share overlapping genes that are associated with domestication traits. Such domestication traits are associated with docile phenotypes and behaviors. There was also no significant overlapping between AMH and Neanderthals. In case of random overlapping, researchers made sure to also compare human and domesticated species genomes to greater apes and found that this wasn't the case, which is positive evidence for self-domestication. They also looked at nearly fixed ancestral or derived SNPs in archaic lineages that have variants in AMH that would represent "under-domesticated" traits. Using other literature sources, they found that there's an ancestral mutation related to symptoms of aggressiveness and developmental delays in certain AMH diseases. Lastly, they noticed there were changes in genes associated with neural crest development in AMH from Neanderthals/Denisovans that were the same changes seen in neural development of self-domesticated species. This study can improve our understanding of why social cooperation so clearly defines modern human cognition.

Paulette Ma

Monday, November 12, 2018

Early Human Dispersals within the Americas



A new study entitled, “Early Human Dispersals within the Americas” was published in Science on November 8th by researchers from the University of Copenhagen and University of California schools summarized in Science Daily.  The researchers sequenced the genome of 15 ancient humans found in North America (ranging from Alaska to Patagonia), including some that had not been analyzed previously and compared them to genomes from nearly 400 contemporary humans as well as to SNP panels of nearly 200,000 SNPs. They found that Native Americans did not migrate out of Beringia until about 12,000 years ago and once they did engaged in a rapid expansion and split into many different populations. They also found that these early Native Americans first reached South America about 11,700 years ago and found they mixed with an Australasian population around this time. In the middle to late Holocene another wave of migration came from Mesoamerica into South America. Finally, they were able to discern that two samples from Lagao Santa and Spirit Cave that were initially labelled to be “paleoamericans” that predated the presence of Native Americans in the Americas due to their unusual cranial morphology were, in fact, Native Americans that likely had unusual skulls as a result of population isolation.

Ancient DNA and Migratory Patterns

Original Article: https://www.cell.com/cell/fulltext/S0092-8674(18)31380-1
News Article: https://www.eurekalert.org/pub_releases/2018-11/cp-ade110118.php
IMAGE

New genome-wide ancient DNA data is being utilized to revise the history of the peopling of Central and South America. This history of migratory patterns in the Americas has long been the focus of archeogeneticists, geneticists, and biologists of many different fields.  The history is constantly being revised as new date presents itself. Now, new genome-wide ancient DNA data has being utilized by an international research team to revise the history of the peopling of Central and South America.

Many recent studies have come to the same conclusion as this particular study, which involves co-senior author David Reich.  The researchers involved used DNA from 49 individuals from Central and Southern America.  Their DNA suggests that within the ancestral lineage of migrants that originally populated these areas there are two previously unknown migrant lineages.  One of these migrants waves was displaced by a new wave of migrants 9 kya.  The descendants of these new migrants are very closely related to peoples in modern who are located in the same region.

Additionally, the study found that certain groups of individuals in Central and South America were closely related to the Clovis peoples who were mainly located in North America.  Prior to this, it was not known that Clovis peoples had succeeded in spreading beyond North America.

Hannah Jacobson

Civil War POW study finds a father's stress can alter a son's genetics


A new study of the offspring of Union soldiers adds to a growing body of evidence that suggests traumatic events experienced by one generation can have profound effects on the next. This all concerns the growing field of epigenetics, the ability for our DNA to be affected by and interact with the environment. The study, based on an analysis of National Archives records of Civil War prisoners of war and their families, turned up stories of surviving captivity in the notorious Andersonville prison in Georgia, where crowding, starvation, and poor sanitation were rampant. To see how these conditions affected or did not affect POWs and their offspring, click here.

For the full study, click here.

Wednesday, October 31, 2018

Variation In The Shape of the Human Birth Canal


The common understanding has been that the shape of a human mother's birth canal has been fashioned by the evolutionary forces that it needs to be wide enough to allow large brained babies to pass through but narrow enough for women to walk efficiently. This evolutionary compromise is known as the obstetrical dilemma. Research by biological anthropologist, Lia Betti, and evolutionary ecologist, Andrea Manica, challenge the obstetrical dilemma. The obstetrical dilemma would suggest that birth canal shape around the world would be relatively standardized but the findings of these researches did not support this. Betti and Manica measured the pelvises of 348 female human skeletons from 24 different parts of the world. They found women from sub-Saharan Africa and some Asian populations has pelvises that were narrow from side to side and deep from front to back. They found that Native American women had wider canals and that Native Americans and Europeans had the most oval-shaped upper canals. They saw that there was less variability in shape in populations farther from Africa.  Their analysis proposed that the variable shapes were due to neutral evolution through genetic drift and migration.  They hypothesized that climate could have contributed to different shapes however they found little evidence for it and suggest further research into other ecological factors.  Betti and Manica said their research could be important for modern obstetric practice in multi-ethnic societies as modern medical understanding is developed mainly on studies of European women.
https://www.sciencemag.org/news/2018/10/birth-canals-are-different-all-over-world-countering-long-held-evolutionary-theory
http://rspb.royalsocietypublishing.org/content/285/1889/20181807

Maeve Curran

Neanderthal and Modern Human Hybridization




Two researchers, one from the University of Arizona and one from Stanford University, recently published an article in which they analyzed segments of Neanderthal ancestry in the modern human genome related to virus resistance. They ultimately found 152 introgressed gene fragments. They then tested these fragments to try to address their “poison-antidote” hypothesis. Their hypothesis was that as the two species exposed each other to new viruses, they also exchanged virus-interaction proteins (VIPs), which allowed them to have some resistance to these viruses without developing these proteins through natural mutations. These VIPs interact with a variety of RNA viruses such as modern-day HIV, influenza A, and hepatitis C. The specific RNA virus-based VIPs are seen in higher proportions in European than East Asian populations. Most of these introgressed segments in modern humans originated from the second major interbreeding event. This type of analysis of introgressed segments can also be used to detect ancient epidemics. This study can have profound impacts on ancient genetic epidemiology and understanding how these introgressed segments impact the human genome as discussed in recent news articles such as this one.

Joshua Porter