How Slow Motion Waves of Jumping Genes in the Human Genome Are Used in Genetics Research
Slow motion isn’t only for making things look cool; it’s also an invaluable storytelling device. Slow-mo can add emotional intensity and dramatize pivotal scenes in movies. Slow-mo is even used scientifically as a way of studying phenomena that are too fast for us to perceive directly – high-speed cameras can capture hummingbird wings flapping away!
Humans are born with a specific set of genes.
Human genomes contain many kinds of genetic variations that range from complete extra or missing chromosomes to single DNA sequence changes. Some changes have phenotypical effects for individuals such as genetic disorders; others do not; the vast majority of genetic variation remains phenotypically neutral; thus the goal of genomics research is to discover whether any particular variant causes disease in an individual.
High-throughput sequencing technology has allowed researchers to compare genomes across individuals and populations, providing an unprecedented opportunity for scientists to understand how the human genome has developed through time, as well as monitor gene movement throughout its entirety; providing insight into potential origins of genetic disease in humans.
Genetic disorders are believed to be caused by mutations in specific genes. While most mutations are harmless, others can lead to serious consequences and it is difficult to ascertain their exact source unless there is evidence linking a genetic variation and disease together.
Geneticists use various approaches to detect genetic variations in human genomes, such as comparing healthy and sick individuals’ genomes. By identifying genes responsible for disease, scientists may develop treatments and cures more effectively while medical professionals will gain more information with which to treat their patients effectively.
Scientists are using genetic information not only to discover disease-causing genes but also to examine how the human genome has developed over time. As humans possess unique genomes among other species due to possessing many non-existent genes found elsewhere, scientists are studying our DNA closely in order to learn how our bodies have changed into what they are today.
Researchers using new techniques such as PacBio Hi-C and ONT LRS sequencing have unlocked more structural variation in the human genome than ever before, creating variation maps which could aid in diagnosing genetic diseases and creating targeted therapies.
These genes are inherited.
Long recognized, genes have long been passed down through our families; yet their exact mechanisms of transmission were often unknown. In the late 1800s, Gregor Mendel conducted breeding experiments with pea plants which greatly advanced our knowledge of genetic inheritance. He discovered certain traits can be passed from mother to daughter or even father to son through multiple generations; mutations may alter them further and alter health accordingly.
Genes provide instructions to our cells for producing proteins, and each protein serves many different functions in our bodies. How we inherit our genes will dictate how well our body will operate and which diseases may be at risk; but with gene shuffling we can combine and match different genes together to form new coded proteins to better adapt to changing conditions or protect ourselves against diseases.
Each cell in our bodies contains 46 chromosomes – 22 pairs of sex chromosomes and two X-linked ones -, each one holding between 20,000 to 25,000 genes; scientists continue to discover new ones each day.
Some genes are known as “jumping genes,” and act like viruses in that they can move from part of our genome to another, potentially causing mutations at each new location. Over time, our cells learn to silence most of these jumping genes; one, called LINE-1, remains active within our DNA cells and remains active.
LINE-1 functions in much the same way as HIV; by producing copies of itself using RNA (the chemical cousin of DNA), and then inserting it in to new locations in the genome. Scientists think it likely that LINE-1 and its related viruses have existed alongside our genome for millions of years, both being stitched into it as hosts chromosomes as well as existing in isolation from them.
Researchers have recently made the astonishing discovery that LINE-1 activity increases with age. Led by Gael Cristofari of Inserm and Simona Saccani from Universite Cote d’Azur, their team used an advanced genome sequencing technique to capture jumpy genes right after they had been introduced into chromosomes; additionally they found evidence for increased activity through DNA methylation as a factor.
