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

Tuesday, January 30, 2018

Beagles cloned from a gene-edited donor


"Is creating a life destined for illness and pain, worth it?"; or so is the question for many cloning projects involving animals. Sinogene (a Beijing based biotech company) has announced the first dog cloned from a gene-edited donor (a Beagle name Apple). Apple was originally gene-edited so that he would have problems with cholesterol regulation - the leading cause of Atherosclerosis. And now, there are three identical clones to him  (Longlong, Xixi, and Nuonuo).

The puppies were cloned for the purpose of medical research, and thus, they will spend their entire lives in a small room, and likely suffering from illness. These scientists argue though that their work will save human lives, but whether this is true or not may not be clear for many years to come. If it's worth it, may have an answer before then.

- Elizabeth (Liz) Tapanes

Genome and male sexual orientation





A recent discovery found that, the male sexual orientation is linked to a section of chromosome 13 near the gene SLITRK6 which is expressed in the diencephalon (brain region) that was previously found to vary in structure between gay and straight men, and the chromosome 14 near the gene for thyroid stimulating hormone receptor. This TSHR has previously been reported to have a link between homosexuality with atypical thyroid function. Some researchers however conclude that the sample size for this study was small to come up with the conclusion, and perhaps claim the only reason this would be big news would be due to the controversy with the topic. In the meantime, while other researchers try to expand this study and use more acceptable methods, we can appreciate this piece of news and fight about it later.


Find the article here.

Joanne Munga

Evolving sets of gene regulators explain some of our differences from other primates


A very recent discovery in field of genetics and evolution pinpoints why human and non-human primates are different, although many similarity are obvious in activity of genes. Using three primate species (human, chimpanzee and rhesus macaque), Professor Adam Siepel's team investigates which promoters and enhancers regulate a gene in a single CD4+ T cells of the immune system, and reports fascinating differences in the ways that genes are regulated. Another great approach while trying to understand behavioral and morphological differences in evolutionary process.

Link: https://phys.org/news/2018-01-evolving-gene-differences-primates.html

---Sylvain

Oldest Genome from the Americas Sequenced





The oldest genome from the Americas has recently been sequenced in order to determine when the continent's first occupants arrived and in how many migrations. The genome belongs to an 11,500 year old infant whose family most likely subsisted by hunting big game and gathering various plants in the Beringia region of upper Alaska. Researchers discovered that this infant is not directly related to modern Native American groups, rather, the two most likely shared a common ancestor from a population that migrated across Beringia roughly 25,000 years ago. Researchers postulate that this population most likely split roughly 21,000 years ago with one group staying in Beringia--from which the infant is descended from, and one group setting off to explore the Americas--from which modern Native Americans are descended from. Additionally, researchers discovered that the infant was equally related to both the northern and southern genetic subgroups of Native Americans suggesting that there was only one migration into the Americas. The complete genome sequencing of the infant sheds light onto a decades-old debate.

You can find the link to the Science article here or the link to the original article published in Nature here


Leanne Chambers

Predictions for the future of consumer genomics

A recent article in MedCity News outlines the past, present, and future of genome testing being sold to consumers.  The cost of sequencing an entire genome has fallen from $3 billion to $1,000 in a decade, and companies are now offering "personal genome service" for as little as $99.  Over 13% of respondents in a UBS survey said they had taken a genomics test, and of those who had not, 25% said they plan to in the next 12 months.  The UBS study predicted a market size of $2-7 billion dollars for direct-to-consumer "genome services" in 2018.  However, the number of companies offering these services may have outgrown the market, and companies like Invitae, the so-called "Amazon of Medical Genetics" are aggregating a large number of tests into a single platform.

For these reasons, the author predicts that expansion to the clinical and insurance markets will occur in 2018.  Pre-natal genomic screening is far less invasive than an amniocentesis, and more and more patients are electing for it.  In the insurance market, Prenetics is a genome service partnering with Manulife, Prudential, and HSBC (Asia).  The insurance market tests focus on diet, fitness, disease risk and drug efficacy as opposed to the ancestry focused personal tests.  They can be used by insurance companies to separate policy-holders by risk category.

Have you taken a genome test from 23andMe, Ancestry or the like?  Would you?  Would you elect for pre-natal genome screening?  Would you buy health insurance from a company that would require genome sequencing in their evaluation?

See the article here for more information and predictions.


Genome sequencing and the food on your plate.



Genome sequencing can be used to examine phenotypic traits associated with animals which are consumed for food, as illustrated by Kong et al’s. (2018) study of muscle color, which is thought to be related to the quality of meat, in broiler chickens. Therefore, genome sequencing can have an impact on what we decide to put our plates. Kong et al. (2018) used the previously sequenced Red Jungle Fowl genome as a reference to compare the genomes of broiler chickens with low and high muscle colour variations, and a control, and found that SNPs in regions of the DNA related to maintaining the DNA within the chromosomes, different types of collagen fibres, as well as various proteins may affect the exhibited muscle color (Kong et al. 2018). However, it is suggested by Kong et al. (2018) that further study of the genome is needed to fully investigate the effect of SNPs across the broiler chicken genome in relation to muscle color. Overall, genome sequencing can have nutritional and potentially economic implications for the human population (Kong et al. 2018).

Click here for the link to the article.

Kong, H.R., Anthony, N.B., Rowland, K.C., Khatri, B., and Kong, B.C., 2018. Genome re-sequencing to identify single nucleotide polymorphism markers for muscle color traits in broiler chickens. Asian-Australas. J. Anim. Sci. 31: 13-18.

Accessed 01/29/18

Victoria Lockwood


Monday, January 29, 2018

Ethical and big data issues in genome sequencing

A recent news "tidbit" from WiredUK brings up some issues that are probably in many people's minds as we continue to utilize highly precise genome sequencing - privacy, ethics, and a personal interest of mine, big data. Article here: http://www.wired.co.uk/article/precision-medicine

As genome sequencing gets faster and cheaper, it becomes more accessible to more people on a more frequent basis. How do we store all of that data? Should we be storing that data? Does your genetic fingerprint count as PII?? As usual, legal and ethical framework lags behind science. But, unusually in this case, so does data storage. With data storage comes issues of security, etc. Food for thought!

-Kim Foecke

miRNA molecule potentially linking binge drinking and cardiovascular disease

In a recent study at the University of Illinois, researchers investigated the relationship between microRNA-21, binge drinking, and poor vascular function. They studied the blood samples and tissue biopsies of 14 young adults. One group of 7 was defined as binge drinkers and the other group of 7 was defined as abstainers. Researchers found early indications of vascular dysfunction and irregularly high presence of microRNA-21 in binge drinkers that were not present in abstainers. They also found that suppression of microRNA-21 helped revitalize vascular function in binge drinkers but not abstainers. Therefore, the University of Illinois researchers are hopeful that microRNA-21 may be employed in the early detection of cardiovascular disease and a treatment option for the amelioration or prevention of cardiovascular disease.

MicroRNAs are small, non-coding RNAs that regulate the translation of their target messenger RNAs in the cytoplasm through mRNA degradation and/or translational repression. Scientific evidence suggests microRNAs are capable of regulating more than 60% of the human protein-coding genome at the translational level. The swift production of nucleotide and amino acid sequence data by next generation sequencing techniques has made it possible for researchers to begin delving into the relationships between microRNAs and disease. The scientific findings at the University of Illinois are one example of many research avenues pertaining to miRNA as biomarkers.

Click here for the medical news article
Click here for the scientific publication

- Evan Holmes