The Microsatellite Sequence (CT)n · (GA)nPromotes Stable Chromosomal Integration of Large Tandem Arrays of Functional Human U2 Small Nuclear RNA Genes

Bailey, Arnold D.; Pavelitz, Thomas; Weiner, Alan M.

doi:10.1128/mcb.18.4.2262

Cited by 25 publications

(13 citation statements)

References 78 publications

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“…A number of authors have suggested another function for microsatellites and show that di-nucleotide repeats can act as recombination hot spots (Treco and Arnheim, 1986;Wahls et al, 1990;Bailey et al, 1998). This microsatellite function allows populations to recover genetic variation lost through genetic drift and rapidly adjust to evolutionary demands (Foster and Trimarchi, 1994;Rosenberg et al, 1994).…”

Section: Functional Importance Of Microsatellitesmentioning

confidence: 99%

Origin, evolution and genome distribution of microsatellites

et al. 2006

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Microsatellites, or simple sequence repeats (SSRs), have been the most widely applied class of molecular markers used in genetic studies, with applications in many fields of genetics including genetic conservation, population genetics, molecular breeding, and paternity testing. This range of applications is due to the fact that microsatellite markers are co-dominant and multi-allelic, are highly reproducible, have high-resolution and are based on the polymerase chain reaction (PCR). When first introduced, the development of microsatellite markers was expensive but now new and efficient methods of repetitive sequence isolation have been reported, which have led to reduced costs and microsatellite-technology has been increasingly applied to several species, including non-model organisms. The advent of microsatellite markers revolutionized the use of molecular markers but the development of biometric methods for analyzing microsatellite data has not accompanied the progress in the application of these markers, with more effort being need to obtain information on the evolution of the repetitive sequences, which constitute microsatellites in order to formulate models that fit the characteristics of such markers. Our review describes the genetic nature of microsatellites, the mechanisms and models of mutation that control their evolution and aspects related to their genesis, distribution and transferability between taxa. The implications of the use of microsatellites as a tool for estimating genetic parameters are also discussed.

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Section: Functional Importance Of Microsatellitesmentioning

confidence: 99%

Origin, evolution and genome distribution of microsatellites

et al. 2006

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“…The 45-kb U1 repeats are slightly heterogeneous, but the 6.1-kb U2 repeat units are homogeneous except for a hypervariable CT dinucleotide repeat region (Fig. 1A) which may play a role in the stability (4) and/or concerted evolution of the array (54,57). Although U2 arrays differ in gene copy number from individual to individual, the arrays are stably inherited (55) and subject to dosage compensation (3,68).…”

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confidence: 99%

Human U2 snRNA Genes Exhibit a Persistently Open Transcriptional State and Promoter Disassembly at Metaphase

Pavelitz

Bailey

Elco

et al. 2008

Molecular and Cellular Biology

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In mammals, small multigene families generate spliceosomal U snRNAs that are nearly as abundant as rRNA. Using the tandemly repeated human U2 genes as a model, we show by footprinting with DNase I and permanganate that nearly all sequences between the enhancer-like distal sequence element and the initiation site are protected during interphase whereas the upstream half of the U2 snRNA coding region is exposed. We also show by chromatin immunoprecipitation that the SNAPc complex, which binds the TATA-like proximal sequence element, is removed at metaphase but remains bound under conditions that induce locus-specific metaphase fragility of the U2 genes, such as loss of CSB, BRCA1, or BRCA2 function, treatment with actinomycin D, or overexpression of the tetrameric p53 C terminus. We propose that the U2 snRNA promoter establishes a persistently open state to facilitate rapid reinitiation and perhaps also to bypass TFIIHdependent promoter melting; this open state would then be disassembled to allow metaphase chromatin condensation.U2 small nuclear RNA (snRNA) is the catalytic RNA component of the U2 small nuclear ribonucleoprotein particle (snRNP). Along with the U1, U4/U6, and U5 snRNPs, the U2 snRNP assembles onto eukaryotic mRNA precursors to form a spliceosome, the large multisubunit molecular machine responsible for mRNA splicing (81). The genes encoding these U snRNAs are single copy in budding yeast, where introns are rare and U snRNPs are scarce, but in mammals, where almost all mRNAs have multiple introns, the major spliceosomal U snRNAs are encoded by multigene families and the U snRNPs are nearly as abundant as rRNA. U snRNA genes have been characterized for many species, and the major transcriptional signals and trans-acting factors are well defined, especially in mammals (35,41,42). U1 to U5 are transcribed by RNA polymerase II (Pol II). The 20-bp proximal sequence element (PSE) centered at position Ϫ50 upstream from the transcription initiation site serves many of the functions of a TATA element and binds the U snRNA-specific transcription factor SNAPc (snRNA-activating protein complex; also known as PSE-binding transcription factor [PTF] and PSE-binding protein). The bipartite distal sequence element (DSE) is centered at position Ϫ235 upstream of the initiation site, serves as an enhancer, and typically binds the Sp1 and Oct-1 (or Staf/SBF) factors (90). The distance between the DSE and PSE is almost exactly one nucleosome in length and is highly conserved in metazoa; indeed, the evidence for a positioned nucleosome between the DSE and PSE is strong for U2, U6, and 7SK, suggesting that this nucleosome juxtaposes factors bound to the DSE and PSE (7, 112).In mammals, transcription apparently continues for approximately 800 bp past the U snRNA coding region (19,73). The 3Ј end of the U snRNA precursor is generated by an endonucleolytic cleavage-presumably by the Int11 component of the Integrator complex (5, 66)-just upstream from the 3Ј-end formation signal (also known as the 3Ј box) located 10 to 20 bp...

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“…A study in humans has demonstrated that the microsatellite (CT)n stabilizes a long series of tandem integration of the transcription of the U2 snRNA genes (Bailey et al 1998). Thus, it is suggested that the function of these repeating units in multigene families is to conserve the tandem array (Liao and Weiner 1995).…”

Section: Discussionmentioning

confidence: 98%

Structure and Organization of the Engraulidae Family U2 snRNA: An Evolutionary Model Gene?

Chairi

Rebordinos

2015

J Mol Evol

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The U2 snRNA multigene family has been analyzed in four species of the Engraulidae family--Engraulis encrasicolus, Engraulis mordax, Engraulis ringens, and Engraulis japonicas--with the object of understanding more about the structure of this multigene family in these pelagic species and studying their phylogenetic relationships. The results showed that the cluster of this gene family in the Engraulis genus is formed by the U2-U5 snRNA with highly conserved sequences of mini- and micro-satellites, such as (CTGT)n, embedded downstream of the transcription unit; findings indicate that this gene family evolved following the concerted model. The phylogenetic analysis of the non-transcribed spacer of cluster U2-U5 snDNA in the 4 species showed that the sequences of the species E. encrasicolus and E. japonicus are closely related; these two are genetically close to E. mordax and slightly more distant from E. ringens. The data obtained by molecular analysis of U2-U5 snDNA and their secondary structure, with the presence of the micro-satellite (CTGT)n and mini-satellites, show clearly that the species E. encrasicolus and E. japonicus are closely related and would be older than E. mordax and E. ringens.

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The Microsatellite Sequence (CT)_n · (GA)_nPromotes Stable Chromosomal Integration of Large Tandem Arrays of Functional Human U2 Small Nuclear RNA Genes

Cited by 25 publications

References 78 publications

Origin, evolution and genome distribution of microsatellites

Origin, evolution and genome distribution of microsatellites

Human U2 snRNA Genes Exhibit a Persistently Open Transcriptional State and Promoter Disassembly at Metaphase

Structure and Organization of the Engraulidae Family U2 snRNA: An Evolutionary Model Gene?

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