DNA Day marks the anniversary of when Watson, Crick, Wilkins, Franklin and Gosling published their papers inNatureon thestructure of DNA. It also marks the completion of the Human Genome Project in 2003.
The discovery of DNA has had a huge impact on our lives. The field of genetics began with the advent of Mendelian genetics in the 17thCentury, but without any idea of the molecular basis of inheritance. Knowledge of cells led to knowledge of chromosomes, then finally to the structure of DNA.
Genetics has gradually specialized into many fields that are still advancing and further branching off today. In honor of DNA day I wanted to mention a few areas of genetics that I think we have particular reason to be excited about:
Cytogenetics
Cytogenetics involves looking at the structure and function of chromosomes. The field has been around for much longer than we have known about the structure of DNA – in fact 19thCentury cytologists used compound microscopes to discover the organization present in all plants and animals. A review by Malcolm A Ferguson-Smith (University of Cambridge, UK) recently published inMolecular Cytogeneticslooks at thehistory and evolution of cytogenetics.
While not a new field, cytogenetics has become an established clinical technique. In addition to research and reviews,Molecular Cytogeneticsregularly publishes important case reports that shed light on cytogenetic aberrations that lead toserious syndromes and diseases. A recent case report in the journal used cytogenetic analysis to show a first case ofabnormal sexual development in a catwith symptoms similar to that of Klinefelter syndrome, where males have extra chromosome and the sexual organs do not properly develop.
Mobile genetic elements
This area of genetics involves the study of DNA rearrangements, ranging from transposition and other types of recombination mechanisms to patterns and processes of mobile element and host genome evolution. The founder of this field was Nobel Prize winner Barbara McClintock, who discovered transposition in maize during the 1940s and 1950s, and then used this to demonstrate that genes can be switched on and off.
The field has grown to be hugely diverse, as shown by thetransposable elements labs directoryin the journalMobile DNA,包括任何实验室研究移动元素s.
With greater knowledge of transposable elements (and with genome sequencing), we know that around 50% of the human genome is composed of mobile DNA. We have not yet fully realized the cause and consequences of DNA sequences moving around genomes – while it used to be suspected that transposition is a random process, research suggests that it is an important force in genome evolution. An article recently published inMobile DNAshowedhorizontal transfer of transposons between invertebrates and bats, possibly through bats ingesting insects. So are we literally what we eat?
Epigenetics
Epigenetics is the study of heritable changes that do not change DNA sequence. The field incorporates biochemical changes to DNA (such as DNA methylation) or structural proteins – histones (such as histone acetylation). It also involves regulation of gene expression, by non-coding RNA, chromatin landscape, etc.
The field has boomed in recent years, and now epigenetics is quickly moving to the clinic. The journalClinical Epigeneticsregularly publishes articles that advance our knowledge on the epigenetic basis of disease, or translate epigenetic principles into potential new therapies. Nutriepigenomics is a very exciting field, looking at how food affects our epigenome and could potentially fight the effects of disease and aging. A recent review inClinical Epigeneticsinvestigates ifepigenetics is the key to personalized nutrition.
Genomics
Genomics is a much newer field than genetics, having been made possible by the invention and development of sequencing technologies. This discipline looks at the genome as a whole, using powerful sequencing and bioinformatic techniques. DNA Day is a proud day for genomics, paying tribute to the milestone of completing the Human Genome Project.
Sequencing capabilities are constantly improving, in terms of making them more accurate, easier, less laborious, and cheaper. A recent article inHuman Genomicsdemonstrates a new technology for rapid detection ofgenetic mutations in individual breast cancer patientsby next-generation DNA sequencing.
Investigative genetics
This really encompasses all disciplines of genetics, including the above-mentioned areas. The potential to use genetics to answer questions of societal relevance is indeed very exciting and something that non-geneticists are doing more often nowadays, such as the recent use of ancient DNA analysis alongside historical evidence toidentify the skeleton of Richard IIIin a car park in Leicester, UK.
An article collection onHuman evolutionary genomicsin the journalInvestigative Geneticslooks at the analyses of modern and ancient human genomes, allowing comprehensive investigations into where and when our ancestors originated and migrated, as well as how environmental factors impacted adaptation. A research article in the series by Chris Tyler-Smith and colleagues in fact showed, through modeling, thatjust one to three men are likely to have been the ancestors of Europeans.
Investigative Geneticscovers the full scope of genetics, and also has five sections – ancient DNA, genetic technology & methodology, anthropological genetics, human population genetics, and forensic genetics.
Over the years DNA research has branched into many more disciplines than those listed above, and I look forward to seeing how genetic and genomic research will impact our lives in the future. Emerging areas such assingle-cell sequencingandgene editingare showing great promise for biotechnological and biomedical applications.
Sam Rose
Latest posts by Sam Rose(see all)
- Raising funds for genetic diseases- 23rd September 2016
- The Epigenetics and Chromatin Clinic- 9th November 2015
- 恢复最古老的遗传学期刊之一- 23rd October 2015
“the advent of Mendelian genetics in the 17th Century” ???!!!