Post by Ace on Nov 21, 2013 14:13:42 GMT -5
www.dailymail.co.uk/health/article-2511321/Pierce-Brosnan-gene-gives-people-freckles-dark-hair-blue-eyes-discovered-scientists.html
Scientists discover the 'Pierce Brosnan gene' that gives some people freckles, dark brown hair and blue eyes
Study looked at variant in gene IRF4 which is part of the immune system IRF4 acts like a 'dimmer switch', regulating the amount of melanin in surface skin cells - melanin protects us from UV light and sunburn A variant of IRF4 can reduce the amount of melanin getting to the skin cells resulting in freckles - but it is not known exactly why this causes freckles
By Emma Innes
PUBLISHED: 12:34 EST, 21 November 2013
A ‘Pierce Brosnan gene’ which causes people to develop freckles, brown hair and blue eyes has been discovered by scientists.
A study of 2,230 people in Iceland identified a gene variant that is strongly related to sensitivity to the sun, brown hair, blue eyes, and freckles.
Normally, the further from the equator people come from, the less pigmentation they have in their skin, hair and eyes.
A 'Pierce Brosnan gene' which causes people to develop freckles, brown hair and blue eyes has been discovered by scientists
This makes them more sensitive to the sun, but means they can more easily absorb sunlight to generate vitamin D3, a nutrient important for healthy bones.
The study looked at a particular variant in the gene IRF4 which is part of the immune system and produces a protein that helps to fight off viruses and harmful bacteria.
IRF4 appears to act like a 'dimmer switch' regulating the amount of melanin in surface skin cells, called keratinocytes, which protect us from the UV light which causes sunburn.
They discovered a variant of IRF4 can reduce the amount of melanin getting to the keratinocytes resulting in freckles, but they still haven't found the exact cause, according to the study published in the journal Cell.
Dr Dan Kastner, Scientific Director of the National Human Genome Research Institute, in Bethesda near Washington, said: ‘Genes involved in skin pigmentation also have important roles in human health and disease.
‘This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors.’
The gene also makes people sensitive to the sun. Pierce Brosnan is pictured looking as though he has caught the sun
A study of 2,230 people in Iceland identified a gene variant that is strongly related to sensitivity to the sun, brown hair, blue eyes, and freckles, like Lindsay Lohan's
Dr William Pavan, co-author and senior investigator at the Genetic Disease Research Branch said: ‘Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome.
‘Exploring the biological pathways and molecular mechanisms that involve variants in these under-explored portions of the genome is a challenging part of our work.
‘This is one of a few cases where scientists have been able to associate a variant in a non-coding genomic region with a functional mechanism.’
Scientists discover the 'Pierce Brosnan gene' that gives some people freckles, dark brown hair and blue eyes
Study looked at variant in gene IRF4 which is part of the immune system IRF4 acts like a 'dimmer switch', regulating the amount of melanin in surface skin cells - melanin protects us from UV light and sunburn A variant of IRF4 can reduce the amount of melanin getting to the skin cells resulting in freckles - but it is not known exactly why this causes freckles
By Emma Innes
PUBLISHED: 12:34 EST, 21 November 2013
A ‘Pierce Brosnan gene’ which causes people to develop freckles, brown hair and blue eyes has been discovered by scientists.
A study of 2,230 people in Iceland identified a gene variant that is strongly related to sensitivity to the sun, brown hair, blue eyes, and freckles.
Normally, the further from the equator people come from, the less pigmentation they have in their skin, hair and eyes.
A 'Pierce Brosnan gene' which causes people to develop freckles, brown hair and blue eyes has been discovered by scientists
This makes them more sensitive to the sun, but means they can more easily absorb sunlight to generate vitamin D3, a nutrient important for healthy bones.
The study looked at a particular variant in the gene IRF4 which is part of the immune system and produces a protein that helps to fight off viruses and harmful bacteria.
IRF4 appears to act like a 'dimmer switch' regulating the amount of melanin in surface skin cells, called keratinocytes, which protect us from the UV light which causes sunburn.
They discovered a variant of IRF4 can reduce the amount of melanin getting to the keratinocytes resulting in freckles, but they still haven't found the exact cause, according to the study published in the journal Cell.
Dr Dan Kastner, Scientific Director of the National Human Genome Research Institute, in Bethesda near Washington, said: ‘Genes involved in skin pigmentation also have important roles in human health and disease.
‘This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors.’
The gene also makes people sensitive to the sun. Pierce Brosnan is pictured looking as though he has caught the sun
A study of 2,230 people in Iceland identified a gene variant that is strongly related to sensitivity to the sun, brown hair, blue eyes, and freckles, like Lindsay Lohan's
Dr William Pavan, co-author and senior investigator at the Genetic Disease Research Branch said: ‘Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome.
‘Exploring the biological pathways and molecular mechanisms that involve variants in these under-explored portions of the genome is a challenging part of our work.
‘This is one of a few cases where scientists have been able to associate a variant in a non-coding genomic region with a functional mechanism.’
Sounds like genuinely interesting research though.
