Author Topic: Human-Neanderthal gene variance is involved in autism  (Read 675 times)

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Offline Dexter

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Human-Neanderthal gene variance is involved in autism
« on: August 04, 2016, 12:08:05 pm »
Sounds like it's only a matter of time until we make a cure.

http://medicalxpress.com/news/2016-08-human-neanderthal-gene-variance-involved-inautism.html

A structure that represents the biggest known genetic difference between humans and Neanderthals also predisposes humans to autism. An international team of researchers led by UW Medicine genome scientist Evan Eichler published the findings today in Nature. The structure involves a segment of DNA on chromosome 16 that contains 28 genes. This segment is flanked by blocks of DNA whose sequences repeat over and over.

Such stretches of duplicated DNA, called copy-number variants, are common in the human genome and often contain multiple copies of genes. Although most copy-number variants seem to have no adverse effect on health, some have been linked to disease. However, when both strands of a segment of DNA are flanked by highly identical sequences, they can be susceptible to large copy-number differences, including deletion, duplication and other changes, during the process of cell division. In this case, deletion, which causes the loss of the segment's 28 genes, results in autism.
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Oceander

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Re: Human-Neanderthal gene variance is involved in autism
« Reply #1 on: August 04, 2016, 11:03:11 pm »
Ok, but what else is it related to?  DNA is very efficient (or lazy, depending on your perspective) and many sequences are involved in very disparate areas of development and regulation.