Human Retrotransposons in Health and Disease by Gael Cristofari

By Gael Cristofari

Retrotransposons are hugely repetitive and dispersed sequences. those transposable
elements have the capacity to proliferate through an RNA-mediated copy-and-paste mechanism,
called retrotransposition, and belong to a number of far-off subclasses in humans.
The lengthy INterspersed Element-1 (L1 or LINE-1) is the one independent transposable
element capable of generate new copies within the glossy human genome. The role
of this procedure as a resource of genetic range and illnesses in people has been
recognized because the overdue Eighties. although, the advances of deep-sequencing technologies
have lately shed new gentle at the volume of L1-mediated genome variations.
They have additionally ended in the invention that L1 isn't just capable of mobilize in the
germline—resulting in inheritable genetic variations—but may also bounce in somatic
tissues, reminiscent of embryonic stem cells, neuronal progenitor cells, and in lots of cancers.
L1 is usually in a position to mobilize in trans different sequences, resulting in the expansion
of Alu components, which belong to a different category of repeats, the fast INterspersed
Elements (SINEs); or to the formation of processed pseudogenes, which additionally contribute
to genome plasticity. figuring out the hyperlink among retrotransposon-mediated
structural genomic version and human phenotypes or illnesses has
become an severe box of analysis.

Show description

Read Online or Download Human Retrotransposons in Health and Disease PDF

Similar genetics books

The Impact of Plant Molecular Genetics

The impression of molecular genetics on plant breeding and, therefore, agri­ tradition, is probably enonnous. figuring out and directing this capability im­ pact is important due to the pressing matters that we are facing pertaining to sustainable agriculture for a becoming international inhabitants in addition to conservation of the world's speedily dwindling plant genetic assets.

The Biochemistry of Retinoic Acid Receptors I: Structure, Activation, and Function at the Molecular Level

A job for diet A in residing organisms has been recognized all through human heritage. within the final a hundred years, the biochemical nature of diet A and its lively by-product, retinoic acid, its physiological influence on development procedures and the fundamental information of its mechanism of motion were published by way of investigations conducted by means of researchers utilizing vertebrate and extra lately invertebrate types to check a multiplicity of techniques and prerequisites, encompassing embryogenesis, postnatal improvement to previous age.

Additional resources for Human Retrotransposons in Health and Disease

Example text

1996). To generate a new copy, the full-length donor L1 has to negotiate with the host cell through each of these steps. On the other hand, each step provides an opportunity for the host cell to control L1 activity. From the L1’s perspective, host regulatory mechanisms can be generally categorized as transcriptional regulation or posttranscriptional regulation. Inarguably, transcriptional regulation can be the most effective means of controlling L1 activities, simply because without transcription retrotransposition is impossible.

368 Feng Q, Moran JV, Kazazian HH Jr, Boeke JD (1996) Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell 87:905–916 Flemr M, Malik R, Franke V, Nejepinska J, Sedlacek R, Vlahovicek K, Svoboda P (2013) A retrotransposon-­driven dicer isoform directs endogenous small interfering RNA production in mouse oocytes. Cell 155:807–816. 001 Friedli M, Trono D (2015) The developmental control of transposable elements and the evolution of higher species. Annu Rev Cell Dev Biol 31:429–451.

Semin Cancer Biol 20:234–245. 001 Hancks DC, Kazazian HH Jr (2012) Active human retrotransposons: variation and disease. Curr Opin Genet Dev 22:191–203. 006 Han K, Xing J, Wang H, Hedges DJ, Garber RK, Cordaux R, Batzer MA (2005) Under the genomic radar: the stealth model of Alu amplification. Genome Res 15:655–664. 3492605 Hayashi K, Chuva de Sousa Lopes SM, Kaneda M, Tang F, Hajkova P, Lao K, O’Carroll D, Das PP, Tarakhovsky A, Miska EA, Surani MA (2008) MicroRNA biogenesis is required for mouse primordial germ cell development and spermatogenesis.

Download PDF sample

Rated 4.68 of 5 – based on 37 votes