Showing posts with label gene linkage. Show all posts
Showing posts with label gene linkage. Show all posts

Friday, April 12, 2019

The pit behind your ear


Posterior helical pits (PHEPs) are an uncommon trait that appear to follow an autosomal dominant mode of inheritance. PHEPs were linked to different syndromes when they were first examined; three were directly associated with ear pits, BWS, SGBS and RTS. The syndromes where more frequent in families with this trait, however in many cases, no relationship between the two phenotypes was observed, suggesting that they are not directly linked. After those observations were made, many studies have been conducted to try to reveal the connection between PHEPs and the syndromes, but the results are unclear.
A study focused on PHEPs and BWS demonstrated that PHEPs are inherited as an independent trait but there's still a type of linkage with BWS, possibly representing causal heterogeneity. Currently it is suspected that there might be an unknown site of mutation in the chromosome that causes the syndrome, and ear pits might be linked to that one instead, but that is yet to be probed.
I find this fascinating because my family possesses PHEPs and as of now, no one has been born with any of the syndromes, but I wonder if it could happen in future generations? Also, the ear pits were passed to every family member, from my grandfather all the way to my youngest cousin, except for me, perhaps I'm adopted.

Sunday, March 17, 2019

The Genetics Behind Insomnia

An article at the Scientific American discusses the the findings of studies done on the genetic basis of Insomnia, and its possible link to things like depression and heart disease. There were two genome-wide association studies or GWAs done on insomnia, and it was found that when looking that when looking at a wide variety of individuals there were several area of the genome that were linked to insomnia, and even more genes that were involved with it. In the studies it was also found that several of the genes involved with insomnia are also linked to things like depression, anxiety, and type 2 diabetes. It was also found that insomnia is more closely related to psychiatric diseases than it is to other sleep related disorders, and that it may cause depression and coronary artery disease.

I found this article to be fascinating because many people wouldn't think that a disorder like insomnia could genetically linked when it in fact is. I also think it is rather interesting that many of these diseases and disorders that were previously believed to have no link to genetics actually do now that they are being looked into. These studies are now helping to open the door for further research and discovery in the biology of these disorders.

Sunday, February 3, 2019

Superpower Research

An article in the NY Times, Seeking Superpowers in the Axolotl Genome, discusses a regenerative amphibian, the Axolotl. Also known as the Mexican walking fish, this salamander has the capability of regrowing most of its body parts. While some animals are able to regenerate to some degree, these little guys are almost limitless. Jeremiah Smith, an associate professor from the University of Kentucky states, "as long as you don't cut off their heads, they can grow back a nearly perfect replica of just about any body part, including up to half of their brain". This is why researchers are working on improving maps of their DNA. These creatures can only be found in canals in the far south of Mexico City due to habitat degeneration and imported fishing. However, captive axolotl are thriving in laboratories. Unlike most amphibians, these salamanders reach sexual maturity and spend their lives as large tadpole babies. Their genome is about ten times the size of that of a human, however, a team of researchers have published in Genome Research the most complete assembly of DNA yet. Dr. Keinath and her colleagues mapped more than 100,000 pieces of DNA on chromosomes making this the largest genome to be assembled at this level. They used an approach referred to as linkage mapping, which relies on trend that DNA sequences that are physically close together on a chromosome tend to be inherited together. Using such technique, axolotls and their close relatives, tiger salamanders were crossed to track patterns of gene inheritance. The researchers were able to identify the axolotls' sequences of DNA and where they sat along the 14 chromosomes. This data is providing information for the process of human regenerative medicine.
Regeneration of the body is a fascinating and useful capability. More research into this ability would be positive because it could eventually lead to regenerative human, or other species who lack this feature, medicine. If humans were able to regenerate body parts, it could have a detrimental impact. The ability to regenerate could cut back on health care costs because transplants may be lessened, it could prolong life or improve the quality of life.



Monday, November 23, 2015

Sharing Genes With Acorn Worms

Researchers from Okinawa Institute of Science and Technology Graduate University in Okinawa, Japan, have found that there are 8,716 gene families between acorn worms and a wide range of diverse mammals. Even though us humans do not look anything like a worm besides having something shaped like a head, we share a common ancestor from over 500 million years ago. Many other species including cephalopods still have genes from that common ancestor along with us. The research team, led by Oleg Simakov, sequenced and analyzed genes from gathering two acorn worm species. One species was Ptychodera flava collected in Hawaii, and the other species Saccoglossus kowalevskii collected from the Atlantic Ocean.

Juvenile Ptychodera flava

Acorn worms are part of a lineage called deuterostomes, where they have been around the longest. The research team also found that some deuterostomes have become more complex than them where it becomes harder to see any gene linkage between them and mammals. Some of the genes found in the other deuterostomes that deal with gill development can be connected to the genes that develop the pharynx. In the end, the research team found that we share about 70% of our human genome with the acorn worm, which is about 14,000 genes.

This article was very interesting to read and important for the future research regarding gene linkage with other living things on Earth. You would not think you share as much as 70% of your genes with something as little and different looking as a worm. This research is important to see where we are going and where we came from on Earth. I would love to read future research regarding this topic that deals with other organisms.

Original article