Showing posts with label CDKN2A. Show all posts
Showing posts with label CDKN2A. Show all posts

Tuesday, April 11, 2017

Some Chickens Cross Roads, Others Cross Stripes



Some Birds have stripes others do not, why is that? Recently a group of researchers set out with the question of why do birds show such a diverse amount of coat color and pattering, and the genetic mystery behind it.  One of the main breeds of chickens they looked at was the french breed Coucou de Rennes, because it exhibits very exciting plumage.  First the researchers started off looking at the sex linked chromosomes; because, it had previously been identified that that's where the barring that occurs gene is located, in birds males have chromosomes ZZ and females have a ZW set of chromosomes.  They found that the barring is a combination of two genes working together, one as a regulator gene and one as the actual expressed gene.  The expressed gene, CDKN2A, is also associated with tumor suppression in humans.  In humans inactivity of this gene is often linked to Melanoma, skin cancer, cases.  In chickens however it also effects the type and way the pigment of the chickens appears in and on the feathers.  This study helps to highlight how useful domesticated breeds of animals are with evolutionary studies.
for the original article here
for chicken recipes here
for more information on chickens here

Saturday, February 4, 2017

What is Going On With the Gene CDKN2A?!


Can skin cancer and pancreatic cancer be connected? There are two genes to date that link familial melanoma, CDKN2A and CDK4. 


There is a genetic mutation in the gene CDKN2A (or P16). People who have this mutation are at a high risk for developing cancer. This certain genetic topic hits hard for me personally because my grandfather had malignant invasive melanoma and then ten years later was diagnosed with pancreatic cancer and not even a year later was deceased. My mother was diagnosed with invasive malignant melanoma as well about a month ago and her oncologist is sending her for genetic testing to test her for the mutation. There is a link between this P16 gene and pancreatic cancer. I believe this is a very serious and scary problem that tumors are arising in the pancreas with the CDKN2A mutation. Families from different origins and geographical areas have been, and are currently being tested.

Wednesday, November 16, 2011

New Gene Variant Seems to Double Risk of Familial Melanoma

Researchers have identified a new gene variant that seems to double the background risk of familial melanoma. This mutation results in a change in the amino acid sequence of microphthalmia-associate transcription factor, or MITF for short. This same protein has already been known to be over-expressed or otherwise mutated in melanoma tumors. This change in the amino acid sequence gives rise to the increase transcription of certain genes. Wide genomic studies of melanoma have resulted in the discovery of two genes linked to familial melanoma, CDKN2A and CDK4. However, additional studies have led researchers to identify another gene related to melanoma and other skin related diseases: MITF E318K. This gene has been shown to be linked with the increased expression of pigmentation genes, but it is not completely clear yet whether or not this increased pigmentation is a result of the MITF E318K or simply of the increased MITF activity itself. The increased risk of melanoma in regards to the MITF variant has been compared to that of a severe sunburn.

http://www.genengnews.com/gen-news-highlights/scientists-identify-gene-variant-that-doubles-background-risk-of-melanoma/81245947/ (Article Link)

 

 
Melanoma