The Evolution of the Human Genome

Human Genome Project investigators aim to create tools that assist them in pinpointing specific genes. These include the genetic map, which displays landmarks more or less evenly spaced along chromosomes; and physical maps consisting of sets of DNA that span entire chromosomes.

Evolutionary Changes

As mutations accumulate in human eggs and sperm cells, they occasionally give rise to new traits that benefit an individual and allow them to pass their genes along more efficiently – this is how natural selection works; while most mutations are harmful or neutral, those which improve certain traits may eventually increase in frequency over time and usurp competing genotypes as new traits gain traction; eventually forming what we know of as our current genome today.

Evolution may take millions of years, but it can also happen quickly. Thanks to genomic data sets available now, scientists are tracking how quickly individual genetic changes take hold within human populations. One such study from Kaiser Permanente and UK Biobank using over 60,000 sequenced individuals showed how some alleles can spread rapidly; these instances are known as selective sweeps and allow scientists to track how quickly and broadly beneficial genes take over a population.

Computational biologist Ryan Hernandez of UCSF conducted research to understand this phenomenon with colleagues. To look for evidence of selective sweeps, they compared genetic data from some humans of European ancestry with that from modern Africans and Native Americans. While such events can result in rapid rise of new and useful genotypes within a population, these events alone aren’t sufficient for a trait’s dominance within it.

Analysis by the team’s research team revealed that nearly every human ethnic group possesses unique genetic variants in genes responsible for DNA replication and repair, which determine which mutations are passed along to offspring and which alleles predominate over others. They also discovered that same-gene mutations could have different impacts when located elsewhere on the genome.

Prior to recent, researchers relied on the slow process of studying single-nucleotide polymorphisms (SNPs), or single-base changes within genes, known as SNPs. But Jonathan Pritchard of Stanford University in Palo Alto, California and postdoc Yair Field used massive genome sequencing data sets from Illumina to track evolutionary shifts over short timescales by counting unique single nucleotide changes which are rare within human genomes, and then comparing these changes against neighboring DNA sequences.


Genetic modifications that help an organism better adapt to its environment are known as adaptations. Animals with beneficial traits tend to reproduce more offspring, and over time those traits become more widespread throughout populations. If enough individuals carry certain characteristics that become part of the species’ “normal” characteristics.

Scientific researchers can use ancient DNA samples to trace genetic adaptation across past human populations. Furthermore, modern-day samples allow them to predict how an exposed gene may respond differently when exposed to different environmental conditions.

Researchers have observed that genes encoding for proteins involved in cell metabolism evolve more rapidly in humans than in other mammals, suggesting that some metabolic processes within human cells may be more highly regulated and thus more vulnerable to selective pressures.

Another way of detecting selection is by looking at patterns of gene mutations in humans. At UCSF, Ryan Hernandez, an assistant professor of bioengineering and therapeutic sciences, and Molly Przeworski, an associate professor in both Human Genetics and Ecology and Evolution departments used data from the 1000 Genomes Project to analyze mutations affecting DNA that codes for proteins. They looked for mutations evolving faster than expected before comparing their rate with neutral rates within that part of genome to determine if any differences reflect either relaxation of constraint or positive selection.

Determining the source of acceleration can be challenging. For instance, many regions of the human genome are experiencing rapid evolution as a result of structural variants (SVs) – such as insertions, deletions, duplications and rearrangements – which occur within open chromatin. They can be detected using genomic sequence analysis but their significance requires interpretation unlike single nucleotide variants or mutations.

Functional genomics approaches are continually becoming more advanced. One team used a sensitive technique to analyze open chromatin from 130 cell types–specifically DNase I hypersensitive sites (haDHSs). They discovered that haDHSs are amassing mutations faster than expected and may have evolved due to positive selection.

Natural Selection

Charles Darwin and Alfred Russel Wallace first introduced the theory of natural selection in 1858 without much controversy; today it has become widely accepted thanks to years of meticulous empirical work conducted across multiple species.

Basic Evolution Theory dictates that heritable traits which aid an organism’s survival and reproduction tend to become more prevalent over time in its population, as descendants with such traits are better equipped to compete for scarce resources such as food, water, mates and so forth. As these beneficial heritable characteristics pass from generation to generation they gradually replace less-favored characteristics, leading to an evolving species who invented and play online poker on platforms described at

Natural selection works when populations consist of individuals with various physical traits – known as phenotypes – that depend on individual DNA molecules and differing genetic codes. Over time, dominant traits will emerge if their offspring provide competitive advantages; otherwise a new population will arise that differs significantly from its ancestral one and be recognized as new species.

Successful traits often leave behind their “signature” in the genomes of members of a population, and scientists who study genomes can detect it by looking for patterns of heritable mutations that occur more frequently among certain people than others – an indirect indicator of natural selection at work in human genome.

Scientists scoured the genomes of over 200 individuals who donated samples as part of the 1000 Genomes Project in search of these signatures, searching for changes in context-dependent single nucleotide polymorphisms (SNPs). SNPs are bits of genetic material located on chromosome ends that cause them to act differently, and this team found an increase in SNPs common among people living near areas with malaria prevalence – an indication of natural selection for disease resistance.

Genetic Variation

Genetic variation results when mutations produce slightly altered versions of genes called alleles that pass down to offspring and dictate physical features and susceptibilities to disease in each individual – making each person an individual variant within our species.

Mutations is capable of producing variations to both the genetic code itself and any switches controlling when and where genes are expressed, as well as variations in size and number known as copy numbers; when more copies exist within an organism’s DNA there will be greater chance for variation to arise.

Biological research has demonstrated that genetic variation is much more widespread than previously believed. New genome sequencing technologies have enabled researchers to access an abundance of data about human genome variation and variability.

Sickle cell disease and cystic fibrosis, classic single gene diseases that rely heavily on genetic variation to cause disease, serve as reminders that some genetic variations can lead to disease; more often complex diseases result from interactions among multiple genes and environmental factors interacting together to create them. Research is now focused on understanding molecular basis of multifactorial diseases as a means for prevention.

Indeed, geneticists are making some of their greatest breakthroughs in genomics by investigating the genes and variations linked to complex diseases. Utilizing evolutionary conservation – in which many genes exist in similar locations across species – geneticists have been able to pinpoint disease-associated variants using evolutionary conservation as a strategy.

Studies of cancer-linked mutations found by looking at genes conserved since Escherichia coli have led geneticists to suspect that mutations of this gene would cause certain forms of colon cancer.

Scientists have utilized this same strategy to detect genetic variations associated with complex diseases like Alzheimer’s and bipolar disorder. Moving forward, new technologies will enable them to probe for all combinations of mutations within an entire gene or set of genes to assess their functional effects and gain further understanding.