On this page you will find featured genes that have surprising roles. Discoveries on this front are rolling in every day.
A bigger spleen and adaptation to hypoxic intolerance: The genes PDE10A and BDKRB2
Variants of two genes will enable a human to breath-hold underwater longer-- helpful if you hunt your food in the sea.
Researchers reported significant evidence of genetic selection for traits that facilitate breath-holding on dives to hunt seafood, the main food source for the Bajau people for thousands of years. Melissa Ilardo, Rasmus Nielsen, Eske Willerslev and colleagues found that "natural selection on genetic variants in the PDE10A gene have increased spleen size in the Bajau, providing them with a larger reservoir of oxygenated red blood cells." They also found evidence of selection for a variant of the gene BDKRB2, which is known to affect the human diving reflex-- how the physiology of the organs of the chest and abdomen respond to water being applied to the face, especially cool water.
David Epstein's book The Sports Gene
David Epstein delves into what the latest science has to say about sports capabilities from sprinting to hitting fastballs. The answers are complex and so far incomplete, but often genes are implicated. He explores the research on myostatin gene mutations and over-production of red blood cells due to an EPO receptor mutation, both of which are described by the geneticists who examine Cono at Stanford in Performance Anomalies. Epstein's level of detail, fluid prose, and boldness in addressing controversial issues are to be commended.
"We Are All Mutants"
Cono is not the only one with genetic mutations. A groundbreaking study published in 2011 revealed that each person receives approximately 60 new mutations in their genome from their parents. Then in 2012 another study of 179 people from different regions of the world showed that the average person has around 400 defects in his or her genes. Both results were big surprises. Here are two references:
Dr. Victor McKusick
The first recognized genetics-based performance anomalies were of course maladies whose origins were later discovered to be genetic. The pioneer of this field was Dr. Victor McKusick, who started the first compendium of gene-based disorders; it grew into "McKusick's Catalog" and ultimately Mendelian Inheritance in Man, a continuously updated catalog of human phenotypes with corresponding genetic information. More on Dr. McKusick and Mendelian Inheritance in Man can be found at these links:
The Mutated Myostatin Gene
In 2004 a boy was born with a striking hyper-muscularity that was soon after attributed to mutations in both copies of the child's myostatin gene (the product of which normally restrains muscle growth). As of 2011, the principal scientific investigator reports that the boy continues to do well. The original 2004 research report and an accompanying perspective are found here, followed by a news report containing a short video on the subject:
The Sodium Channel N9A Gene and Pain Insensitivity
There are at least a few types of congenital pain insensitivity - all of them extremely rare. The underlying cause for one of them is a defective gene for a sodium channel in the membrane of pain-related neurons. Normally this sodium channel allows ions to flow across the membrane, inducing a pain signal. Some types of defective SCN9A genes eliminate the ability to feel pain, causing risk of inadvertent injury. On the other hand, there is also a type of SCN9A mutation that causes augmented pain sensation in response to warmth.
Nicholas Wade of The New York Times reports here on the early research that linked SCN9A mutations to pain insensitivity:
Justin Heckert chronicles the lives of several children with congenital insensitivity to pain in The New York Times Magazine:
The Pro-Opiomelanocortin Gene
The pro-opiomelanocortin gene in humans makes skin darken when exposed to sunlight, and releases a pleasure-inducing endorphin. No wonder sunshine makes people happy.
The Undiagnosed Diseases Program
Genetic investigations are at the heart of Dr. William Gahl's Undiagnosed Diseases Program at the National Institutes of Health. Genomic understanding of extremely rare disorders helps elucidate basic mechanisms of human biology. More info can be found here:
Presidential Genetic Blueprints: A State Secret?
Andrew Hessel, Marc Goodman, and Steven Kotler present well-informed speculation on how DNA harvested from world leaders might be decoded for nefarious purposes. It might already be happening:
The Fascinating FOXP2 Gene
The FOXP2 gene (see Chapter Five in Performance Anomalies) has been implicated as central to the evolutionary emergence of the human capacity for speech, and a defective version of the gene has been identified in a London family, several of whose members are incapable of articulate speech. Nicholas Wade of The New York Times has reported on this research:
Novelty-seeking Behavior and the DRD4 Gene
The 7R variant of the DRD4 gene has been associated with novelty-seeking behavior, and more recently, has been correlated with liberal political leanings. There are several theories on how this neurotransmitter receptor gene might exert its behavioral influences. Here is an update from The Economist:
The 1000 Genomes Project
The 1000 Genomes Project is uncovering previously unknown genetic mutations in humans. It is "an international collaboration to produce an extensive public catalog of human genetic variation, including SNPs (single-nucleotide polymorphisms) and structural variants, and their haplotype contexts. This resource will support genome-wide association studies and other medical research studies. The genomes of about 2500 unidentified people from about 25 populations around the world will be sequenced using next-generation sequencing technologies. The results of the study will be freely and publicly accessible to researchers worldwide." Here is a link to the project: