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Role of LINE-1 retrotransposon in ge...

Babushok, Daria V.

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Role of LINE-1 retrotransposon in genome evolution: Mechanisms of L1 integration and L1-mediated creation of new genes.

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Role of LINE-1 retrotransposon in genome evolution: Mechanisms of L1 integration and L1-mediated creation of new genes./
作者:	Babushok, Daria V.
面頁冊數:	246 p.
附註:	Adviser: Haig H. Kazazian, Jr.
Contained By:	Dissertation Abstracts International68-04B.
標題:	Biology, Bioinformatics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3260876

Role of LINE-1 retrotransposon in genome evolution: Mechanisms of L1 integration and L1-mediated creation of new genes.
Babushok, Daria V.

Role of LINE-1 retrotransposon in genome evolution: Mechanisms of L1 integration and L1-mediated creation of new genes. - 246 p.

Adviser: Haig H. Kazazian, Jr.

Thesis (Ph.D.)--University of Pennsylvania, 2007.

LINE-1 retrotransposon (L1) has emerged as the largest contributor to mammalian genome mass. Differences in the number and activity levels of L1s contribute to inter-individual variation in humans, both by affecting an individual's likelihood of acquiring new L1-mediated mutations, as well as by differentially modifying gene expression. In this dissertation, I address two key questions on L1's contribution to genome dynamics: the mechanism of L1 integration in vivo, and the role of L1 in creation of new genes.Subjects--Topical Terms:

1018415
Biology, Bioinformatics.

Role of LINE-1 retrotransposon in genome evolution: Mechanisms of L1 integration and L1-mediated creation of new genes.
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245 1 0 $a Role of LINE-1 retrotransposon in genome evolution: Mechanisms of L1 integration and L1-mediated creation of new genes.
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520 $a LINE-1 retrotransposon (L1) has emerged as the largest contributor to mammalian genome mass. Differences in the number and activity levels of L1s contribute to inter-individual variation in humans, both by affecting an individual's likelihood of acquiring new L1-mediated mutations, as well as by differentially modifying gene expression. In this dissertation, I address two key questions on L1's contribution to genome dynamics: the mechanism of L1 integration in vivo, and the role of L1 in creation of new genes.
520 $a To study the mechanism of integration of human L1, our lab developed a transgenic mouse model of L1 retrotransposition, and I characterized the frequency and structure of de novo L1 insertion events in transgenic mice. In all transgenic mice studied, retrotransposition occurred at high frequency in early development or somatically, but was very rare or absent in the germline. I mapped integration sites of 51 de novo insertions, and characterized complete integrant structures of 33. The insertion structures highlighted the prevalence of highly truncated L1s, which suggests that many endogenous L1 insertions, sometimes as extreme as simple polyA repeats, may be unrecognized. None of the characterized insertions were accompanied by target site deletions or rearrangements. Importantly, over 13% of integrants carried short stretches of extra nucleotides, which allowed us to infer the mechanism of 5'end attachment and L1 integration.
520 $a In the second part of this dissertation, I characterized the first example of an exon-shuffled transcript retrotransposed by L1 to form a functional gene, which we called S5aL. S5aL combined the lipid kinase domain and ubiquitin-binding motifs from two different genes, and is expressed specifically in the testes. Rapid divergence eliminated its lipid kinase activity, but S5aL retains affinity for cellular ubiquitinated proteins. Importantly, while the chimpanzee S5aL is efficiently expressed, a singlenucleotide deletion disrupts S5aL translation in humans. This novel testes ubiquitin receptor is an important example of new gene creation and rapid evolution of male reproductive genes, which lead to reproductive isolation and species divergence.
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