First Analysis of Y Chromosome in Neanderthals

          This article was very interesting from Fernando L. Mendez. This was the first study to observe the Y chromosome in Neanderthals. I think it is very interesting that previous studies only sequenced DNA from fossils of Neanderthal woman or mitochondrial DNA (which is only passed down to either sex from the mother). The Y chromosome can carry so many different genes and traits that the female sex chromosome cannot. In this case, they found protein-coding differences between genes in humans and Neanderthals on the Y chromosome which were mutations known in humans to create male-specific minor histocompatibility antigens. The Y chromosome was the main part of the Neanderthal genome that needed to be analyzed. This comes as a shock to me to be honest. Studying the Y chromosome helps scientists understand the population divergence between Neanderthals and modern humans, as well as observe possible genetic interactions between archaic and modern gene variations between hybrid offspring.  The thing that surprises me the most is how much time it took for this to happen. This started almost as far back as 2008. I would think that both sex chromosomes would be analyzed. I am curious to know why there was such a long wait for the Y chromosome. Was there not such a demand to analyze it right away? Did the technology at hand not have the skills to work on it? 

Why Some Kids Don’t Cry…

A new genetic discovery found that children who suffer from symptoms like liver disease irregular tear production and developmental delays have NGLY1 deficiency as an inherited genetic disorder according to the CNN article. In 2014, eight patients were confirmed to share these symptoms and genetic mutations. However, this is a rare condition, which makes it extremely difficult for scientists to study the DNA of patients with this condition. Yet, the Human Genome Project essentially has facilitated scientists with easier access to identifying new or unknown genetic mutations for further research. The deficiency of NGLY1 is caused by two mutations in the NGLY1 gene.

          A child by the name of Grace Wilsey was born with NGLY1 deficiency. Though she visited approximately 100 doctors, only a scientist by the name of Matthew Bainbridge was able to sequence Grace’s genome and find the mutation of the NGLY1 gene to be the destructive gene to be causing Grace not to produce many tears and to be suffering from other symptoms. He compared the sequence to other genome sequences and mutations that were signaled out by other scientists and with this he concluded the mutation to be the cause of the symptoms. It is incredible how much geneticists can do for us in a stressful time like Gracie experienced. The fact that the sequence of our DNA allows scientists to denote any abnormalities or better said destructive mutations (not all are bad) just amazes me!