Abstract：
:The human genome is replete with interspersed repetitive sequences derived from the propagation of mobile DNA elements. Three families of human retrotransposons remain active today: LINE1, Alu, and SVA elements. Since 1988, de novo insertions at previously recognized disease loci have been shown to generate highly penetrant alleles in Mendelian disorders. Only recently has the extent of germline-transmitted retrotransposon insertion polymorphism (RIP) in human populations been fully realized. Also exciting are recent studies of somatic retrotransposition in human tissues and reports of tumor-specific insertions, suggesting roles in tissue heterogeneity and tumorigenesis. Here we discuss mobile elements in human disease with an emphasis on exciting developments from the last several years.
journal_name
Curr Opin Genet Devjournal_title
Current opinion in genetics & developmentauthors
Babatz TD,Burns KHdoi
10.1016/j.gde.2013.02.007subject
Has Abstractpub_date
2013-06-01 00:00:00pages
264-70issue
3eissn
0959-437Xissn
1879-0380pii
S0959-437X(13)00025-7journal_volume
23pub_type
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
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journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
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journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
doi：10.1016/j.gde.2004.07.011
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
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journal_title：Current opinion in genetics & development
pub_type： 杂志文章,评审
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journal_title：Current opinion in genetics & development
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