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'''Retrotransposons''' are mobile [[Genetics|genetic]] elements ([[mobile DNA]]) and are ubiquitous in the [[genome]]s of many [[Eukaryote|eukaryotic]] organisms. They are particularly abundant in plants, where they are often a principal component of nuclear [[DNA]]. In [[maize]] 50-80% <ref>Hake, S. and Walbot, V. (1980) The genome of Zea mays, its organization and homology to related grasses. Chromosoma 79: 251-270 </ref> <ref>SanMiguel P | {{subpages}} | ||
'''Retrotransposons''' are mobile [[Genetics|genetic]] elements ([[mobile DNA]]) and are ubiquitous in the [[genome]]s of many [[Eukaryote|eukaryotic]] organisms. They are particularly abundant in plants <ref>Bennetzen, J. L., (2000) Transposable element contributions to plant gene and genome evolution. Plant Molecular Biology 42: 251–269, 2000.</ref>, where they are often a principal component of nuclear [[DNA]]. In [[maize]] 50-80% <ref>Hake, S. and Walbot, V. (1980) The genome of Zea mays, its organization and homology to related grasses. Chromosoma 79: 251-270 </ref> <ref>SanMiguel P, Bennetzen JL (1998) Evidence that a recent increase in maize genome size was caused by the massive amplification of intergene retrotransposons. Ann Bot 82: 37–44</ref> <ref>Flavell, R.B., Bennett, M.D., Smith, J.B. & Smith, D.B. (1974) Genome size and the proportion of repeated nucleotide sequence DNA in plants. Biochemical Genetics 12, 257−269 (1974).</ref> and in [[wheat]] up to 90% <ref>SanMiguel PJ, Ramakrishna W, Bennetzen JL, Busso CS, Dubcovsky J. (2002) Transposable elements, genes and recombination in a 215-kb contig from wheat chromosome 5A(m).Funct Integr Genomics. 2002 May;2(1-2):70-80. Epub 2002 Apr 12.</ref><ref>Flavell, R.B., Bennett, M.D., Smith, J.B. & Smith, D.B. (1974) Genome size and the proportion of repeated nucleotide sequence DNA in plants. Biochemical Genetics 12, 257−269 (1974).</ref> of the [[genome]] is made up of retrotransposons. They are a subclass of [[transposon]]. | |||
==Biological activity== | ==Biological activity== | ||
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==Types of retrotransposons== | ==Types of retrotransposons== | ||
Retrotransposons belong to the class I type of mobile elements, which consists of two sub-types, the long terminal repeat (LTR) and the non-LTR retrotransposons. | Retrotransposons belong to the class I type of mobile elements, which consists of two sub-types, the long terminal repeat (LTR) and the non-LTR retrotransposons. | ||
The LTR retrotransposons have direct LTRs that range from ~100 bp to over 5 kb in size. LTR retrotransposons are further sub-classified into the Ty1-copia and the Ty3-gypsy groups based on both their degree of sequence similarity and the order of encoded gene products. Ty1-copia and Ty3-gypsy groups of retrotransposons are commonly found in high copy number (up to a few million copies per [[haploid]] [[cell nucleus|nucleus]]) in plants with large genomes. Ty1-copia retrotransposons are abundant in species ranging from single-cell [[algae]] to [[bryophytes]], [[gymnosperms]], and [[angiosperms]]. Ty3-gypsy retrotransposons are also widely distributed, including both gymnosperms and angiosperms. LTR retrotransposons make up approximately 8% of the human genome. | The LTR retrotransposons have direct LTRs that range from ~100 bp to over 5 kb in size. LTR retrotransposons are further sub-classified into the Ty1-copia and the Ty3-gypsy groups based on both their degree of sequence similarity and the order of encoded gene products. Ty1-copia and Ty3-gypsy groups of retrotransposons are commonly found in high copy number (up to a few million copies per [[haploid]] [[cell nucleus|nucleus]]) in plants with large genomes, mostly located near the centromere <ref>Schmidt T, Kubis S, Heslop-Harrison JS (1995) Analysis and chromosomal location of retrotransposons in sugar beet (Beta vulgaris): LINEs and Ty1-copia-like elements as major components of the genome. Chrom Res 3: 335–345 (1995).</ref>. Ty1-copia retrotransposons are abundant in species ranging from single-cell [[algae]] to [[bryophytes]], [[gymnosperms]], and [[angiosperms]]. Ty3-gypsy retrotransposons are also widely distributed, including both gymnosperms and angiosperms. LTR retrotransposons, 450,000 in number, make up approximately 8% of the human genome <ref>[http://www.nature.com/nature/journal/v409/n6822/fig_tab/409860a0_F17.html International Human Genome Sequencing Consortium Nature 409, 860-921 (15 February 2001), FIGURE 17. Almost all transposable elements in mammals fall into one of four classes.]</ref>. | ||
The non-LTR retrotransposons, consists of two sub-types, long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs). They can also be found in high copy numbers (up to 250,000 | The non-LTR retrotransposons, consists of two sub-types, long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs). They can also be found in high copy numbers (up to 250,000) in plant species. | ||
* '''LINEs''' (long interspersed elements) are long DNA sequences (>5kb<ref name=Dictionary>King, Robert C. and William D. Stansfield (1997). A Dictionary of Genetics. Fifth Edition. Oxford University Press.</ref>) that represent reverse-transcribed RNA molecules originally transcribed by [[RNA polymerase II]] into [[mRNA]] (messenger RNA to be [[Translation (genetics)|translated]] into [[protein]] on [[ribosome]]s). LINE elements [[code]] for 2 genes, one of which has known [[reverse transcriptase]] and [[integrase]] activity, enabling them to copy both themselves and other, noncoding LINES such as AluI elements (see below for more detail). Because LINES move by copying themselves (instead of moving, like transposons do), they enlarge the genome. The human genome, for example, contains about 900,000 LINES, which is roughly 21% of the genome.<ref name=Pierce>Pierce, B. A. (2005). Genetics: A conceptual approach. Freeman. Page 311.</ref> LINES are used to generate [[genetic fingerprint]]s. | * '''LINEs''' (long interspersed elements) are long DNA sequences (>5kb<ref name=Dictionary>King, Robert C. and William D. Stansfield (1997). A Dictionary of Genetics. Fifth Edition. Oxford University Press.</ref>) that represent reverse-transcribed RNA molecules originally transcribed by [[RNA polymerase II]] into [[mRNA]] (messenger RNA to be [[Translation (genetics)|translated]] into [[protein]] on [[ribosome]]s). LINE elements [[code]] for 2 genes, one of which has known [[reverse transcriptase]] and [[integrase]] activity, enabling them to copy both themselves and other, noncoding LINES such as AluI elements (see below for more detail). Because LINES move by copying themselves (instead of moving, like transposons do), they enlarge the genome. The human genome, for example, contains about 900,000 LINES, which is roughly 21% of the genome.<ref name=Pierce>Pierce, B. A. (2005). Genetics: A conceptual approach. Freeman. Page 311.</ref> <ref>[http://www.nature.com/nature/journal/v409/n6822/fig_tab/409860a0_F17.html International Human Genome Sequencing Consortium Nature 409, 860-921 (15 February 2001), FIGURE 17. Almost all transposable elements in mammals fall into one of four classes.]</ref>.LINES are used to generate [[genetic fingerprint]]s. | ||
* '''SINEs''' (short interspersed elements) are short DNA sequences (<500 bases <ref name=Dictionary>King, Robert C. and William D. Stansfield (1997). A Dictionary of Genetics. Fifth Edition. Oxford University Press.</ref>) that represent reverse-transcribed RNA molecules originally transcribed by [[RNA polymerase III]] into [[tRNA]], [[rRNA]], and other small nuclear RNAs. SINEs do not encode a functional reverse transcriptase protein and rely on other mobile elements for transposition. The most common SINES in primates are called [[Alu sequence]]s. Alu elements are about 300 base pairs long, do not contain any coding sequences, and can be recognized by the [[restriction enzyme]] AluI (thus the name). With about 1 million copies, SINEs make up about 11% of the human genome.<ref name=Pierce>Pierce, B. A. (2005). Genetics: A conceptual approach. Freeman. Page 311.</ref> While previously believed to be "junk DNA", recent research suggests that both LINEs and SINEs have a significant role in gene evolution, structure and transcription levels. The distribution of these elements has been implicated in some genetic diseases and cancers. | * '''SINEs''' (short interspersed elements) are short DNA sequences (<500 bases <ref name=Dictionary>King, Robert C. and William D. Stansfield (1997). A Dictionary of Genetics. Fifth Edition. Oxford University Press.</ref>) that represent reverse-transcribed RNA molecules originally transcribed by [[RNA polymerase III]] into [[tRNA]], [[rRNA]], and other small nuclear RNAs. SINEs do not encode a functional reverse transcriptase protein and rely on other mobile elements for transposition. The most common SINES in primates are called [[Alu sequence]]s. Alu elements are about 300 base pairs long, do not contain any coding sequences, and can be recognized by the [[restriction enzyme]] AluI (thus the name). With about 1 million copies, SINEs make up about 11% of the human genome.<ref name=Pierce>Pierce, B. A. (2005). Genetics: A conceptual approach. Freeman. Page 311.</ref> <ref>[http://www.nature.com/nature/journal/v409/n6822/fig_tab/409860a0_F17.html International Human Genome Sequencing Consortium Nature 409, 860-921 (15 February 2001), FIGURE 17. Almost all transposable elements in mammals fall into one of four classes.]</ref>. While previously believed to be "junk DNA", recent research suggests that both LINEs and SINEs have a significant role in gene evolution, structure and transcription levels. The distribution of these elements has been implicated in some genetic diseases and cancers. | ||
[[Retrovirus]]es, like [[HIV]]-1 or [[HTLV]]-1 behave like retrotransposons and contain both reverse transcriptase and [[integrase]]. The integrase is the retrotransposon equivalent of the [[transposase]] of DNA-[[transposon]]s. | [[Retrovirus]]es, like [[HIV]]-1 or [[HTLV]]-1 behave like retrotransposons and contain both reverse transcriptase and [[integrase]]. The integrase is the retrotransposon equivalent of the [[transposase]] of DNA-[[transposon]]s. | ||
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==Further reading== | ==Further reading== | ||
* Bennetzen, J. L., (2000) Transposable element contributions to plant gene and genome evolution. Plant Molecular Biology 42: 251–269, 2000.(Provides a comprehensive authoritative overview.) | |||
*Lander ES, Linton LM, Birren B, Nusbaum C, et al.(2001) Initial sequencing and analysis of the human genome. [http://www.nature.com/nature/journal/v409/n6822/full/409860a0.html Nature, 2001; 409(6822): 860-921] | |||
*Hansen RS.(2003) X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. Hum Mol Genet, 2003; 12(19): 2559-67. | |||
*Teugels E, De Brakeleer S, Goelen G, Lissens W, Sermijn E, De Greve J. (2005) De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat. 2005 Sep;26(3):284. | |||
*Han K, Sen SK, Wang J, Callinan PA, et al. (2005) Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages. Nucleic Acids Res, 2005; 33(13): published online July 20, 2005. | |||
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Revision as of 09:52, 14 November 2007
- The content on this page originated on Wikipedia and is yet to be significantly improved. Contributors are invited to replace and add material to make this an original article.
Retrotransposons are mobile genetic elements (mobile DNA) and are ubiquitous in the genomes of many eukaryotic organisms. They are particularly abundant in plants [1], where they are often a principal component of nuclear DNA. In maize 50-80% [2] [3] [4] and in wheat up to 90% [5][6] of the genome is made up of retrotransposons. They are a subclass of transposon.
Biological activity
The retrotransposons replicative mode of transposition increases the copy numbers of elements rapidly and thereby greatly increasing plant genome size. Like DNA transposable elements, they can induce mutations by inserting near or within genes. Furthermore, retrotransposon-induced mutations are relatively stable, because the sequence at the insertion site is retained as they transpose via the replication mechanism.
Retrotransposons copy themselves to RNA and then, via reverse transcriptase, back to DNA. Transposition and survival of retrotransposons within the host genome are possibly regulated both by retrotransposon- and host-encoded factors, to avoid deleterious effects on host and retrotransposon as well, in a relationship that has existed for many millions of years between retrotransposons and their plant hosts. The understanding of how retrotransposons and their hosts' genomes have co-evolved mechanisms to regulate transposition, insertion specificities, and mutational outcomes in order to optimize each other's survival is still in its infancy.
Types of retrotransposons
Retrotransposons belong to the class I type of mobile elements, which consists of two sub-types, the long terminal repeat (LTR) and the non-LTR retrotransposons. The LTR retrotransposons have direct LTRs that range from ~100 bp to over 5 kb in size. LTR retrotransposons are further sub-classified into the Ty1-copia and the Ty3-gypsy groups based on both their degree of sequence similarity and the order of encoded gene products. Ty1-copia and Ty3-gypsy groups of retrotransposons are commonly found in high copy number (up to a few million copies per haploid nucleus) in plants with large genomes, mostly located near the centromere [7]. Ty1-copia retrotransposons are abundant in species ranging from single-cell algae to bryophytes, gymnosperms, and angiosperms. Ty3-gypsy retrotransposons are also widely distributed, including both gymnosperms and angiosperms. LTR retrotransposons, 450,000 in number, make up approximately 8% of the human genome [8].
The non-LTR retrotransposons, consists of two sub-types, long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs). They can also be found in high copy numbers (up to 250,000) in plant species.
- LINEs (long interspersed elements) are long DNA sequences (>5kb[9]) that represent reverse-transcribed RNA molecules originally transcribed by RNA polymerase II into mRNA (messenger RNA to be translated into protein on ribosomes). LINE elements code for 2 genes, one of which has known reverse transcriptase and integrase activity, enabling them to copy both themselves and other, noncoding LINES such as AluI elements (see below for more detail). Because LINES move by copying themselves (instead of moving, like transposons do), they enlarge the genome. The human genome, for example, contains about 900,000 LINES, which is roughly 21% of the genome.[10] [11].LINES are used to generate genetic fingerprints.
- SINEs (short interspersed elements) are short DNA sequences (<500 bases [9]) that represent reverse-transcribed RNA molecules originally transcribed by RNA polymerase III into tRNA, rRNA, and other small nuclear RNAs. SINEs do not encode a functional reverse transcriptase protein and rely on other mobile elements for transposition. The most common SINES in primates are called Alu sequences. Alu elements are about 300 base pairs long, do not contain any coding sequences, and can be recognized by the restriction enzyme AluI (thus the name). With about 1 million copies, SINEs make up about 11% of the human genome.[10] [12]. While previously believed to be "junk DNA", recent research suggests that both LINEs and SINEs have a significant role in gene evolution, structure and transcription levels. The distribution of these elements has been implicated in some genetic diseases and cancers.
Retroviruses, like HIV-1 or HTLV-1 behave like retrotransposons and contain both reverse transcriptase and integrase. The integrase is the retrotransposon equivalent of the transposase of DNA-transposons.
See also
- Transposon
- Genetics
- Alu sequence
- Interspersed repeat
- Retrotransposon_Markers, a powerful method of reconstructing phylogenies.
- Mobile DNA
- Horizontal gene transfer
References
- ↑ Bennetzen, J. L., (2000) Transposable element contributions to plant gene and genome evolution. Plant Molecular Biology 42: 251–269, 2000.
- ↑ Hake, S. and Walbot, V. (1980) The genome of Zea mays, its organization and homology to related grasses. Chromosoma 79: 251-270
- ↑ SanMiguel P, Bennetzen JL (1998) Evidence that a recent increase in maize genome size was caused by the massive amplification of intergene retrotransposons. Ann Bot 82: 37–44
- ↑ Flavell, R.B., Bennett, M.D., Smith, J.B. & Smith, D.B. (1974) Genome size and the proportion of repeated nucleotide sequence DNA in plants. Biochemical Genetics 12, 257−269 (1974).
- ↑ SanMiguel PJ, Ramakrishna W, Bennetzen JL, Busso CS, Dubcovsky J. (2002) Transposable elements, genes and recombination in a 215-kb contig from wheat chromosome 5A(m).Funct Integr Genomics. 2002 May;2(1-2):70-80. Epub 2002 Apr 12.
- ↑ Flavell, R.B., Bennett, M.D., Smith, J.B. & Smith, D.B. (1974) Genome size and the proportion of repeated nucleotide sequence DNA in plants. Biochemical Genetics 12, 257−269 (1974).
- ↑ Schmidt T, Kubis S, Heslop-Harrison JS (1995) Analysis and chromosomal location of retrotransposons in sugar beet (Beta vulgaris): LINEs and Ty1-copia-like elements as major components of the genome. Chrom Res 3: 335–345 (1995).
- ↑ International Human Genome Sequencing Consortium Nature 409, 860-921 (15 February 2001), FIGURE 17. Almost all transposable elements in mammals fall into one of four classes.
- ↑ 9.0 9.1 King, Robert C. and William D. Stansfield (1997). A Dictionary of Genetics. Fifth Edition. Oxford University Press.
- ↑ 10.0 10.1 Pierce, B. A. (2005). Genetics: A conceptual approach. Freeman. Page 311.
- ↑ International Human Genome Sequencing Consortium Nature 409, 860-921 (15 February 2001), FIGURE 17. Almost all transposable elements in mammals fall into one of four classes.
- ↑ International Human Genome Sequencing Consortium Nature 409, 860-921 (15 February 2001), FIGURE 17. Almost all transposable elements in mammals fall into one of four classes.
Further reading
- Bennetzen, J. L., (2000) Transposable element contributions to plant gene and genome evolution. Plant Molecular Biology 42: 251–269, 2000.(Provides a comprehensive authoritative overview.)
- Lander ES, Linton LM, Birren B, Nusbaum C, et al.(2001) Initial sequencing and analysis of the human genome. Nature, 2001; 409(6822): 860-921
- Hansen RS.(2003) X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. Hum Mol Genet, 2003; 12(19): 2559-67.
- Teugels E, De Brakeleer S, Goelen G, Lissens W, Sermijn E, De Greve J. (2005) De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat. 2005 Sep;26(3):284.
- Han K, Sen SK, Wang J, Callinan PA, et al. (2005) Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages. Nucleic Acids Res, 2005; 33(13): published online July 20, 2005.