Monthly Archives: May 2016

Day 121 (5q32-5q33.2): beta adrenergic receptor 2

beta-blockershttps://welltempered.files.wordpress.com/2010/08/beta-blockers.jpg

Day 121 has 73 protein-coding genes (browser view), including the gene for the beta 2 adrenergic receptor (ADRB2).

ADRB2 is one of the five types of adrenergic receptors. Adrenergic receptors are the source of the “adrenaline rush” fight-or-flight reaction. Beta receptors are the target of beta blocker heart medicines.

Click here to see all 8644679 letters of Day 121 with ADRB2 underlined.

Leave a Comment

Filed under Uncategorized

Day 122 (5q33.2-5q34): a microRNA involved in inflammation

Mir-146 SS.png

Day 122 has 39 protein-coding genes (browser view). Between two of these genes (PTTG1 and ATP10B) lies the second most written about microRNA  gene, miR-146a.

miR-146a seems to be involved in immune responses; it is switched on by some aspects of inflammation, and in turn it turns off some aspects, forming a negative regulatory loop.

Click here to see all 8644679 letters of Day 122, with MIR146A underlined.

Leave a Comment

Filed under Uncategorized

Day 123 (5q34-5q35.1): numatrin, a trigger for the cell’s skeleton to divide

Immunocytochemistry/ Immunofluorescence - Nucleophosmin antibody (ab37659)http://www.abcam.com/nucleophosmin-antibody-ab37659.html#description_images_2

Day 123 has 28 protein-coding genes (browser view), including the gene for numatrin aka nucleophosmin, NPM1.

Numatrin was discovered in 1988, and is a protein that sticks to the “skeleton” of the cell’s nucleus (the nuclear matrix). It “turns on” right before the entire cell’s skeleton splits in two during cell division. Accordingly, it is mutated in many cancers.

Click here to see all 8644679 letters of Day 123, with NPM1 underlined.

Leave a Comment

Filed under Uncategorized

Day 124 (5q35.1-5qter): sequestosome 1

1034771399pagets1http://www.seniorfootcare.com.au/pagets-disease-of-bone/

Day 124 has 102 protein-coding genes (browser view) including sequestosome 1 (SQSTM1).

Sequestosome 1 was so named because it can sequester proteins that have been tagged for destruction, pulling them into autophagosomes, where they are then sent to be digested. SQSTM1 mutations have been implicated in many diseases including Paget’s disease of bone.

Click here to see all 8644679 letters of Day 124, with the Paget’s disease mutation P392L flashing.

Leave a Comment

Filed under Uncategorized

Day 125 (6pter-6p24.3): desmoplakin, holding heart muscles together

figure-5-desmosome-600-x-340http://www.e-heart.org/Pages/01_Cardiac_Structure/01_Cardiac_Structure_Molecular_Anatomy_005.htm

Day 125 has 48 protein-coding genes (browser view) including DSP (desmoplakin).

Desmoplakin is part of the desmosome, a special cell-cell junction in the heart. Mutations in the DSP gene cause congenital heart disease.

DSP found in fish, meaning it is at least 420 million years old.

Click here to see all 8540298 letters of Day 125 with DSP underlined.

Leave a Comment

Filed under Uncategorized

Day 126 (6p24.3-6p22.3): HULC, a noncoding RNA turned on in liver cancer

1476-4598-10-38-5https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098824/

Day 126 has 33 protein-coding genes (browser view). The focus of today’s post is a non-protein-coding gene: HULC (Highly Upregulated in Liver Cancer.)

HULC was discovered in 2007 during a search for genes whose expression was different in liver cancer cells (versus normal cells.) Like most long noncoding RNAs, the normal function of HULC is unclear. It can be detected in the blood and may be a useful biomarker for cancer.

Click here to see all 8540299 letters of Day 126, with HULC underlined.

Leave a Comment

Filed under Uncategorized

Day 127 (6p22.3-6p22.2): KIAA0319, a possible language gene

f2mcfhhttp://geon.github.io/programming/2016/03/03/dsxyliea

Day 127 has 33 protein-coding genes (browser view), including KIAA0319, one of the Kazusa genes.

A mutation in this gene has been associated with a ~50% higher chance of having dyslexia. Although it’s not clear how this happens, the gene may play a role in the developing brain.

Click here to see all 8540299 letters of Day 127 with the A311T dyslexia variant flashing.

Leave a Comment

Filed under Uncategorized

Day 128 (6p22.2-6p21.31): the remarkable HLA locus

5-be_the_match-matching_donors_with_patientshttps://bethematch.org/transplant-basics/matching-patients-with-donors/how-donors-and-patients-are-matched/

Day 128 has 277 protein-coding genes (browser view). This very crowded region contains hundreds of genes that form the human leukocyte antigen (HLA) complex.

The HLA genes encode proteins that the immune system uses to distinguish between self and foreign cells. They were discovered through studying graft rejection and the HLA region is used to determine transplant compatibility. The HLA region is extraordinarily diverse between humans as a result of balancing selection.

Click here to see all 8540299 letters of Day 128, with one of the HLA genes HLA-DRB1 underlined.

Leave a Comment

Filed under Uncategorized

Day 129 (6p21.31-6p21.1): SAYSD1, a mystery gene

screen-shot-2016-12-03-at-9-11-32-amhttps://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=pfam10260

Day 129 has 99 protein-coding genes (browser view) including SAYSD1 (SAYSVFN Motif Domain Containing 1).

SAYSD1 is an example of an almost completely uncharacterized gene. Its name comes from a protein motif that it contains, the SATSv/iFN motif, but this motif offers no clue to its function. A similar-looking gene exists in organisms as distant as fish.

Click here to see all 8540299 letters of Day 129 with SAYSD1 underlined.

Leave a Comment

Filed under Uncategorized

Day 130 (6p21.1-6p12.3): VEGFA, telling blood vessels to grow

blood-vessel-overgrowthhttp://www.uclamls.com/2016/01/taming-tumors-understanding-the-role-of-angiogenesis-in-metastasis/

Day 130 has 87 protein-coding genes (browser view) including the gene VEGFA (vascular endothelial growth factor A).

VEGFA stimulates blood vessels to grow during development and wound healing, but can be problematic when tumors use it to trick the body into feeding them with new blood vessels. Drugs like Avastin have been developed to block VEGFA as a cancer treatment.

Click here to see all 8540299 letters of Day 130 with VEGFA underlined.

Leave a Comment

Filed under Uncategorized