Monthly Archives: November 2016

Day 305 (16p12.1-16p11.2): BOLA2, a gene duplication specific to humans

nature19075-f1http://www.nature.com/nature/journal/v536/n7615/fig_tab/nature19075_F1.html

Day 305 has 142 protein-coding genes (browser view) including BOLA2 (bolA family member 2).

BOLA2 is a gene that is found duplicated in all humans but not in other primates, and it rapidly spread across the human population about 300,000 years ago –  a spread that is so rapid that it can only be explained through positive natural selection rather than drift. This same region is often associated with genetic differences in autism, which means it may have had an important role in brain evolution.

Click here to see all 8212576 letters of Day 305 with BOLA2 underlined.

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Day 306 (16p11.2-16q11.2), a region sequenced before the rest of the genome

Screen Shot 2017-01-15 at 6.20.41 PM

Day 306 has 5 protein-coding genes (browser view).

This is one of the regions that was sequenced before the completion of the human genome project, in 1999. Interestingly, this paper thought that the 84 genes (found both today and yesterday on Day 305 (16p12.1-16p11.2): BOLA2, a gene duplication specific to humans) was a surprisingly low number – at the time most scientists believed that there would be 100,000 genes rather than 20,000 – and in fact this region is average in gene density.

Click here to see all 8212577 letters of Day 306.

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Day 307 (16q11.2-16q12.1): wet vs dry earwax

abcc11Ahttp://blogs.discovermagazine.com/gnxp/2010/10/east-asians-dry-earwax-and-adaptation/#.WHwv7rYrKCQ

Day 307 has 15 protein-coding genes (browser view) including ABCC11 (ATP binding cassette subfamily C member 11).

A variant in ABCC11 is associated with earwax and body odor: C, commonly found in Europe and Africa, is associated with wet earwax, while T, commonly found in Asia, is associated with dry earwax. This was the first time that a common variant was found to have a Mendelian effect on a visible trait.

Click here to see all 8212577 letters of Day 307 with the rs17822931 SNP flashing.

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Day 308 (16q12.1-16q21): a SNP in FTO, the strongest determinant of obesity

Fatso_posterhttps://en.wikipedia.org/wiki/Fatso_(1980_film)

Day 308 has 63 protein-coding genes (browser view) including FTO (FTO, alpha-ketoglutarate dependent dioxygenase).

A variant in the FTO gene is the strongest genetic association with obesity.

The name’s origin was unexpectedly prescient. Per Wikipedia:

Peters et al. (1999) cloned a novel gene from a region of several hundred kb deleted by the mouse ‘fused toes’ (FT) mutation. They named the gene ‘fatso’ (Fto) due to its large size.

Click here to see all 8212577 letters of Day 308 with the rs1421085 obesity SNP flashing.

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Day 309 (16q21-16q21): a mystery gene

Screen Shot 2017-01-15 at 10.40.59 PM

Day 309 has 26 protein-coding genes (browser view) including TEPP (testis, prostate and placenta expressed).

Like many genes, all that is known about TEPP is its expression pattern and the fact that it is conserved across many species.

Click here to see all 8212576 letters of Day 309 with TEPP underlined.

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Day 310 (16q21-16q22.3): CTCF, building genomic walls

220px-Perfectwallhttps://en.wikipedia.org/wiki/Wall

Day 310 has 142 protein-coding genes (browser view) including CTCF (CCCTC binding factor).

CTCF is an important protein because it binds to a genome and forms walls – insulators that delineate regions of activity.

Click here to see all 8212577 letters of Day 310

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Day 311 (16q22.3-16q23.3): gigaxonin

giantaxonalneuropathyhttps://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy

Day 311 has 49 protein-coding genes (browser view) including GAN (gigaxonin).

Gigaxonin is named for the syndrome caused when it is mutated – giant axon neuropathy. GAN controls the degradation of part of the skeleton of neurons, and defects cause them to become giant and malfunctional.

(Click here to see all 8212577 letters of Day 311 with GAN underlined.

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Day 312 (16q23.3-16q24.3): MC1R and the inheritance of red hair

onlineshop_1024x1024http://mc1r-magazine.com/

Day 312 has 88 protein-coding genes (browser view) including MC1R (melanocortin 1 receptor).

MC1R is involved with hair and skin pigmentation, and variation in MC1R is strongly associated with red hair, freckles, and skin cancer.

Click here to see all 8212577 letters of Day 312 with the most common red hair mutation, rs1805009/D294H, flashing.

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Day 313 (17p13.3-17p13.1): p53, guardian of the genome

51r8sM5i+YL._SX314_BO1,204,203,200_http://www.amazon.in/p53-Gene-that-Cracked-Cancer/dp/1472910516

Day 313 has 216 protein-coding genes (browser view) including TP53 (tumor protein p53).

p53 is one of the most studied genes because of its critical role in guarding the genome against mutation and cancer.

Elephants were recently found to carry 20 copies of p53, which may explain their resistance to cancer.

Click here to see all 8325744 letters of Day 313 with TP53 underlined.

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Day 314 (17p13.1-17p11.2): recoverin

Recovhttps://en.wikipedia.org/wiki/Recoverin#/media/File:Recov.jpg

Day 314 has 64 protein-coding genes (browser view) including RCVRN (recoverin).

Recoverin is a gene expressed specifically in the retina. It binds to calcium and helps reset the sensitivity of rods and cones after they are respond to light.

Click here to see all 8325744 letters of Day 314 with RCVRN underlined.

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