Chromosome #6
Size: 171 Million Base pairs.
Excerpt: Time to plunge headlong into the most tangled briar of the lot, the roughest,
scratchiest, most impenetrable and least easy of all the brambles in the genetic forest: the
inheritance of intelligence. Chromosome 6 is the best place to find such a thicket. It was
on chromosome 6, towards the end of 1997, that a brave or perhaps foolhardy scientist first
announced to the world that he had found a gene 'for intelligence'. Brave, indeed, for however
good his evidence, there are plenty of people out there w ho refuse to admit that such things
could exist, let alone do.
Gene #1: TBP (TATA box binding protein)
TBP gene gives the instructions to create the protein called the TATA box binding protein. The
name is given by its particular DNA sequence which is TATA. The TATA box binding protein is
essential for transcription because it tells other enzymes when to start reading the gene to
transfer the information onto mRNA. This protein is found throughout cells and tissues all over
your body. This gene is located at position 27 and is 18,537 base pairs long.
Without this protein the production of proteins would be inevitable making cell functions
nearly impossible. Many mutations can also occur including, Huntington disease-like syndrome.
This brain disorder can cause uncontrolled movements, emotional problems, and loss of
thinking ability.
Gene #2 : COL11A2 (Collagen, type XI, alpha 2)
COL11A2 gene makes type XI collagen which gives structure to many tissues. Along with that it
strengthens tissues directly obtaining to bodily muscles, joints, organs, and skin. Type XI
collagen is also the gel that fills the inside of an eyeball, inside the ear, and the discs between
the vertebrae in the spine. It also helps maintain proportioning space for type II collagen fibrils
which is a necessity in the eye and maturing cartilage tissue.
If this gene were to be lacking our tissues would be very weak and be prone to injury.
Additionally, our eyes and ears would be severely damaged due to improper spacing of type II
collagen fibrils and have a lacking gel. With this gene are many mutations which can lead to
hearing loss, improper bone growth, fragmented facial features, osteoarthritis, stickler
syndrome, and many more which will be further explored.
Disorder : Stickler Syndrome
Mutations within COL11A2 and COL9AI (in chromosome 6) specifically cause Stickler Syndrome
as briefly mentioned above. This syndrome does not affect one area of the body, but many and
quite severely. Some of the symptoms of this include distinctive facial appearance, eye
abnormalities, hearing loss, and joint irregularities. Stickler Syndrome can be diagnosed by
looking at a patient's medical history and thorough examination by a physician, or by measuring
abnormalities in the eyes, ears, bones, joins, and face. People can be diagnosed with stickler
syndrome when they are born or throughout their lifetime since stickler syndrome is a
mutation which all depends on inheritance.
Stickler Syndrome is extremely severe due to the extent of the symptoms. This syndrome can
lead to complete hearing loss as well as your appearance becoming altered due to distinctive
facial features. It can also cause joint problems making movement and everyday activities a
struggle. For newborns the odds of getting Stickler Syndrome is 1 in approximately 7,500-9,000.
Interesting Fact!!!
Did you know mutations in chromosome 6 can lead to Parkinson's Disease, Type 1 Diabetes,
Epilepsy, and Hemochromatosis?!
References
COL11A2 - collagen, type XI, alpha 2 - Genetics Home Reference. (n.d.).Genetics Home
Reference - Your guide to understanding genetic conditions. Retrieved April 22, 2012, from
http://ghr.nlm.nih.gov/gene/COL11A2
Chromosome 6 (human) - Wikipedia, the free encyclopedia. (n.d.).Wikipedia, the free
encyclopedia. Retrieved April 22, 2012, from
http://en.wikipedia.org/wiki/Chromosome_6_(human)
Chromosome 6 - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to
understanding genetic conditions. Retrieved April 22, 2012, from
http://ghr.nlm.nih.gov/chromosome/6
Foot Anatomy | eorthopod.com. (n.d.). eorthopod.com | ...everything orthopedic. Retrieved April
22, 2012, from http://www.eorthopod.com/content/foot-anatomy
Hearing Aid Associates. (n.d.).Hearing Aid Associates. Retrieved April 22, 2012, from
http://www.hearingaidsannapolis.com/analog.html
Hemochromatosis Gene. (n.d.). Oak Ridge National Laboratory. Retrieved April 22, 2012, from
http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hfe.shtml
Huntington disease-like syndrome - Genetics Home Reference. (n.d.).Genetics Home Reference Your guide to understanding genetic conditions. Retrieved April 22, 2012, from
http://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome
Stickler Syndrome. (n.d.). Stickler Involved People. Retrieved April 22, 2012, from
www.sticklers.org/sip2/images/stories/SticklerBrochure/sip%20final%20layperson%20brochure.
pdf
Stickler syndrome - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to
understanding genetic conditions. Retrieved April 22, 2012, from
http://ghr.nlm.nih.gov/condition/stickler-syndrome
TBP - TATA box binding protein - Genetics Home Reference. (n.d.).Genetics Home Reference Your guide to understanding genetic conditions. Retrieved April 22, 2012, from
http://ghr.nlm.nih.gov/gene/TBP