A small portion of
DNA repeated several times, mostly in primate genomes, accounting for 11% of
the human genome. It is a retrotransproson, the most abundant moving element in human genome and it derivates from 7SL RNA (portion of rRNA). Its first appearance coincides with the origin of primates
and it plays a major role on gene expression as they contribute to genome
evolution, gene regulation and is related to several diseases.
Nowadays, Alu elements
are about 300 base pairs long, so they are considered short interspersed elements (SINEs).
They are a common source of mutations mostly in
the non-coding DNA regions (the mutation usually does not cause any difference
in the phenotype). However, the variation generated can be used in studies of
the movement and ancestry of human populations.
References:
(2015). Retrieved 26 October 2015, from
http://www.genomebiology.com/content/pdf/gb-2011-12-12-236.pdf
Wikipedia,. (2015). Alu element. Retrieved 26
October 2015, from https://en.wikipedia.org/wiki/Alu_element
Licenciatura em Biologia Aplicada - 2º ano
Carla Matos
Catarina Ribeiro
Luís Carvalho
Sofia Faria
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