Classical nuclear localization signals: definition, function, and interaction with importin α

…, RE Mills, CJ Lange, M Stewart, SE Devine… - Journal of Biological …, 2007 - ASBMB
Abstract The best understood system for the transport of macromolecules between the
cytoplasm and the nucleus is the classical nuclear import pathway. In this pathway, a protein
containing a classical basic nuclear localization signal (NLS) is imported by a heterodimeric

The SIR2 gene family, conserved from bacteria to humans, functions in silencing, cell cycle progression, and chromosome stability.

CB Brachmann, JM Sherman, SE Devine… - Genes & …, 1995 - genesdev.cshlp.org
Abstract Genomic silencing is a fundamental mechanism of transcriptional regulation, yet
little is known about conserved mechanisms of silencing. We report here the discovery of
four Saccharomyces cerevisiae homologs of the SIR2 silencing gene (HSTs), as well as

An initial map of insertion and deletion (INDEL) variation in the human genome

…, A Beauchamp, C Tsui, WS Pittard, SE Devine - Genome …, 2006 - genome.cshlp.org
Abstract Although many studies have been conducted to identify single nucleotide
polymorphisms (SNPs) in humans, few studies have been conducted to identify alternative
forms of natural genetic variation, such as insertion and deletion (INDEL) polymorphisms. In

[HTML][HTML] Natural mutagenesis of human genomes by endogenous retrotransposons

…, AF Neuwald, EG Van Meir, PM Vertino, SE Devine - Cell, 2010 - Elsevier
Two abundant classes of mobile elements, namely Alu and L1 elements, continue to
generate new retrotransposon insertions in human genomes. Estimates suggest that these
elements have generated millions of new germline insertions in individual human genomes

[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

…, RE Mills, MB Gerstein, A Bashir, O Stegle, SE Devine… - Nature, 2015 - ncbi.nlm.nih.gov
Summary Structural variants (SVs) are implicated in numerous diseases and make up the
majority of varying nucleotides among human genomes. Here we describe an integrated set
of eight SV classes comprising both balanced and unbalanced variants, which we

Which transposable elements are active in the human genome?

RE Mills, EA Bennett, RC Iskow, SE Devine - Trends in genetics, 2007 - Elsevier
Although a large proportion (44%) of the human genome is occupied by transposons and
transposon-like repetitive elements, only a small proportion (< 0.05%) of these elements
remain active today. Recent evidence indicates that∼ 35–40 subfamilies of Alu, L1 and SVA

Integration of the yeast retrotransposon Ty1 is targeted to regions upstream of genes transcribed by RNA polymerase III.

SE Devine, JD Boeke - Genes & development, 1996 - genesdev.cshlp.org
Abstract Retroviruses and their relatives, the LTR-containing retrotransposons, integrate
newly replicated cDNA copies of their genomes into the genomes of their hosts using
element-encoded integrases. Although target site selection is not well understood for this

Natural genetic variation caused by small insertions and deletions in the human genome

…, CP Ponting, C Webber, SE Devine - Genome …, 2011 - genome.cshlp.org
Abstract Human genetic variation is expected to play a central role in personalized
medicine. Yet only a fraction of the natural genetic variation that is harbored by humans has
been discovered to date. Here we report almost two million small insertions and deletions

Active Alu retrotransposons in the human genome

…, JV Moran, O Weichenrieder, SE Devine - Genome …, 2008 - genome.cshlp.org
Abstract Alu retrotransposons evolved from 7SL RNA∼ 65 million years ago and underwent
several rounds of massive expansion in primate genomes. Consequently, the human
genome currently harbors 1.1 million Alu copies. Some of these copies remain actively

Natural genetic variation caused by transposable elements in humans

…, LE Coleman, C Tsui, WS Pittard, SE Devine - …, 2004 - Genetics Soc America
Transposons and transposon-like repetitive elements collectively occupy 44% of the human
genome sequence. In an effort to measure the levels of genetic variation that are caused by
human transposons, we have developed a new method to broadly detect transposon