Monthly Archives: June 2016

Day 152 (7p11.1-7q11.21): SBDS, an ancient gene next to a troublesome fossil

shwachmandiamond-syndromehttps://www.epainassist.com/blood-diseases/what-is-shwachman-diamond-syndrome

Day 152 has 25 protein-coding genes (browser view) including SBDS (Shwachman-Bodian-Diamond syndrome). 

SBDS helps build ribosomes, and mutations cause a rare developmental syndrome. Interestingly, it is a genetic fossil nearby – a pseudogene that looks like SBDS – that sometimes confuses the cell during replication, damaging the “living” SBDS gene through gene conversion.

SBDS is present even in Archaea, meaning it is billions of years old.

Click here to see all 8386630 letters of Day 152 with SBDS underlined.

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Day 153 (7q11.21-7q11.23): elastin, a springy protein

older-skin-younger-skinhttp://rejuvenateskinclinic.ie/collagen-elastin-skins-youth-proteins/

Day 153 has 39 protein-coding genes (browser view) including ELN (elastin).

Elastin, as the name suggests, is an elastic, springy protein used in tissues throughout the body.

Click here to see all 8386630 letters of Day 153 with ELN underlined.

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Day 154 (7q11.23-7q21.11): hepatocyte growth factor

image2http://www.intechopen.com/books/trends-in-alcoholic-liver-disease-research-clinical-and-scientific-aspects/alcoholic-liver-disease-and-the-survival-response-of-the-hepatocyte-growth-factor

Day 154 has 35 protein-coding genes (browser view) including HGF (hepatocyte growth factor).

HGF was discovered in 1984 through experiments in rat livers. It is a signal telling cells to grow and divide after organ damage.

Click here to see all 8386631 letters of Day 154 with HGF underlined.

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Day 155 (7q21.11-7q21.2): the Williams syndrome region

elfhttp://powerofthegene.com/joomla/index.php/conversational-genetics/genetics-in-legends-and-folklaw

Day 155 has 30 protein-coding genes (browser view), and overlaps with the region where genes are deleted in Williams syndrome.

From Chris Murgatroyd’s Power of the Gene:

Williams syndrome, affecting in around 1 in 20,000 people, in which a piece of DNA containing a number of genes is lost, leading to cardiovascular problems and a generally low IQ. However, these individuals tend to show competence in areas such as language and music, with many showing a near perfect music pitch and an uncanny sense of rhythm. People with William’s syndrome also have characteristic ‘elfin-like’ facial features with a small upturned nose, depressed nasal bridge and a broad mouth with full lips. This, together with their often-remarkable musical and verbal abilities, and highly sociable depositions, has lead to the suggestion that affected children were the inspiration for folktales and legends such as pixies, elves and fairies, which were often musicians and storytellers.

Click here to see all 8386630 letters of Day 155.

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Day 156 (7q21.2-7q22.1): paraoxonases, genes with a big effect on disease risk

serum_paraoxonase-1_pymol_videohttps://en.wikipedia.org/wiki/Paraoxonase#/media/File:Serum_Paraoxonase-1_PyMol_video.gif comm

Day 156 has 101 protein-coding genes (browser view) including the three paraoxonase genes.

Paraoxonases are enzymes that are important because they break down many drugs and toxins. A common mutation in PON1, Q192R, has been shown to influence the risk of heart disease and cancers.

Click here to see all 8386630 letters of Day 156 with the Q192R PON1 SNP flashing.

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Day 157 (7q22.1-7q31.1): erythropoietin, a signal to make more red blood cells

A group of fan joke with a fake syringe reading EPO during the 17th stage of the 94th Tour de France cycling race between Pau and Castelsarrasin, 26 July 2007.  AFP PHOTO / JOEL SAGET        (Photo credit should read JOEL SAGET/AFP/Getty Images)http://www.sbs.com.au/cyclingcentral/article/2015/12/12/teenage-british-junior-champion-admits-epo-doping

A group of fan joke with a fake syringe reading EPO during the 17th stage of the 94th Tour de France cycling race between Pau and Castelsarrasin, 26 July 2007. AFP PHOTO / JOEL SAGET (Photo credit should read JOEL SAGET/AFP/Getty Images)

 

Day 157 has 88 protein-coding genes (browser view) including EPO (erythropoietin).

Erythropoietin is produced by the kidneys and is a hormone signal to the bone marrow to produce more red blood cells. As a drug, it is used to treat anemia, but also illicitly as a performance-enhancing drug in cycling (although it may not actually help.)

Click here to see all 8386630 letters of Day 157

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Day 158 (7q31.1-7q31.2): a mutation in FOXP2 that helped us speak

screen-shot-2016-12-06-at-7-57-29-amhttp://www.nature.com.libproxy.mit.edu/nrg/journal/v7/n1/fig_tab/nrg1747_F1.html

Day 158 has 22 protein-coding genes (browser view) including FOXP2 (forkhead box protein 2).

FOXP2 was discovered by studying a family with a genetic disorder that prevented them from speaking clearly. Intriguingly, it probably played a major role in human evolution and our development of speech.

Click here to see all 8386630 letters of Day 158 with FOXP2 underlined.

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Day 159 (7q31.2-7q31.33): CFTR ΔF508, the cause of cystic fibrosis

cf-channelhttp://learn.genetics.utah.edu/content/disorders/singlegene/cf/images/cf-channel.jpg

Day 159 has 30 protein-coding genes (browser view) including CFTR (cystic fibrosis transmembrane conductance regulator.)

Like Day 64: (3p22.1-3p21.2): CCR5 Δ32, an HIV resistance mutation,  the ΔF508 cystic fibrosis mutation in CFTR is at surprisingly high frequency (1 in 30 Europeans), which has led to speculation that it has been a target of recent evolution – it may provide protection against cholera in people with one copy, despite causing cystic fibrosis when inheriting two copies.

Click here to see all 8386630 letters of Day 159 with the CFTR ΔF508 mutation flashing.

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Day 160 (7q31.33-7q33): a microRNA that helps you hear

Non-coding microRNAs (miRNAs) have a fundamental role in gene regulation and expression in almost every multicellular organism.http://journal.frontiersin.org/article/10.3389/fnmol.2013.00052/full

Ushakov et al., Front. Mol. Neurosci., 23 December 2013

Day 160 has 51 protein-coding genes (browser view), but today we focus on a non-protein-coding gene, MIR96 (microRNA 96).

MIR96 regulates other genes that are important in hair cells in the inner ear, and mutations cause deafness in both humans and mice.

Click here to see all 8386630 letters of Day 160 with MIR96 underlined.

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Day 161 (7q33-7q34): a cluster of bitter taste receptors

800px-brussels_sprout_closeuphttps://en.wikipedia.org/wiki/Brussels_sprout#/media/File:Brussels_sprout_closeup.jpg

Day 161 has 66 protein-coding genes (browser view). It has one of the two major clusters of taste-receptor genes in the genome, including TAS2R38  (taste receptor 2 member 38).

TAS2R38 is one of the many detectors of bitter tastes. It has two versions in the population, one of which makes people much more sensitive to certain bitter plant chemicals, such as those in Brussels sprouts.

Click here to see all 8386630 letters of Day 161 with TAS2R38 underlined.

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