Day 112 (5q13.2-5q14.1): the SMN inverted region

How-does-SMA-work1http://www.smatrust.org/what-is-sma/how-does-sma-work/

Day 112 has 59 protein-coding genes (browser view), including SMN1 and SMN2 (survival of motor neuron 1 and 2).

The SMN genes are part of an inverted duplication region: a part of the genome that was recently copied and pasted in the opposite direction next to the original copy. Regions like these can confuse the cell while it is replicating DNA and are more likely to lead to mutations. SMN1 is part of the machine that processes mRNA; it seems to be most important in motor neurons, and SMN1 mutations lead to spinal muscular atrophy.

Click here to see all 8644679 letters of Day 112 with SMN1 underlined.

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