Noncoding origins of anthropoid traits and a new null model of transposon functionalization.

Abstract:

:Little is known about novel genetic elements that drove the emergence of anthropoid primates. We exploited the sequencing of the marmoset genome to identify 23,849 anthropoid-specific constrained (ASC) regions and confirmed their robust functional signatures. Of the ASC base pairs, 99.7% were noncoding, suggesting that novel anthropoid functional elements were overwhelmingly cis-regulatory. ASCs were highly enriched in loci associated with fetal brain development, motor coordination, neurotransmission, and vision, thus providing a large set of candidate elements for exploring the molecular basis of hallmark primate traits. We validated ASC192 as a primate-specific enhancer in proliferative zones of the developing brain. Unexpectedly, transposable elements (TEs) contributed to >56% of ASCs, and almost all TE families showed functional potential similar to that of nonrepetitive DNA. Three L1PA repeat-derived ASCs displayed coherent eye-enhancer function, thus demonstrating that the "gene-battery" model of TE functionalization applies to enhancers in vivo. Our study provides fundamental insights into genome evolution and the origins of anthropoid phenotypes and supports an elegantly simple new null model of TE exaptation.

journal_name

Genome Res

journal_title

Genome research

authors

del Rosario RC,Rayan NA,Prabhakar S

doi

10.1101/gr.168963.113

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

1469-84

issue

9

eissn

1088-9051

issn

1549-5469

pii

gr.168963.113

journal_volume

24

pub_type

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