SINEs and LINEs: Highly repeated short and long interspersed sequences in mammalian genomes

Singer, Maxine

doi:10.1016/0092-8674(82)90194-5

Cited by 422 publications

(165 citation statements)

References 0 publications

Supporting

Mentioning

160

Contrasting

Unclassified

Order By: Relevance

“…39 The fast component contains small (a few nucleotides long), highly repetitive DNA sequences, while the intermediate component contains the interspersed repetitive DNA that can be classified as either SINEs (short interspersed nuclear elements), LINEs (long interspersed nuclear elements), or LTRs (long terminal repeats). [40][41][42][43] The repetitive units of the intermediate reannealing component are the major reason that large genomic nucleic acid probes are not well suited for Differences between fusion-signal FISH and split-signal FISH. (a) Fusion-signal FISH with two probes located in the two genes, which are involved in the chromosome translocation.…”

Section: Technical Aspects Of the New Fish Procedures Using Pna-based mentioning

confidence: 99%

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Burg

Poulsen²,

Hunger

et al. 2004

Leukemia

View full text Add to dashboard Cite

Chromosome aberrations are frequently observed in precursor-B-acute lymphoblastic leukemias (ALL) and T-cell acute lymphoblastic leukemias (T-ALL). These translocations can form leukemia-specific chimeric fusion proteins or they can deregulate expression of an (onco)gene, resulting in aberrant expression or overexpression. Detection of chromosome aberrations is an important tool for risk classification. We developed rapid and sensitive split-signal fluorescent in situ hybridization (FISH) assays for six of the most frequent chromosome aberrations in precursor-B-ALL and T-ALL. The split-signal FISH approach uses two differentially labeled probes, located in one gene at opposite sites of the breakpoint region. Probe sets were developed for the genes TCF3 (E2A) at 19p13, MLL at 11q23, ETV6 at 12p13, BCR at 22q11, SIL-TAL1 at 1q32 and TLX3 (HOX11L2) at 5q35. In normal karyotypes, two colocalized green/red signals are visible, but a translocation results in a split of one of the colocalized signals. Split-signal FISH has three main advantages over the classical fusionsignal FISH approach, which uses two labeled probes located in two genes. First, the detection of a chromosome aberration is independent of the involved partner gene. Second, split-signal FISH allows the identification of the partner gene or chromosome region if metaphase spreads are present, and finally it reduces false-positivity. Leukemia ( Chromosome aberrations play an important role in hematological malignancies. 1 In ALL, most of these aberrations concern balanced translocations involving genes that play key roles in the development and function of lymphoid cells, such as transcription factors, cell cycle regulators, and signal transduction molecules. Balanced translocations can result in fusion of two genes that encode leukemia-specific chimeric (fusion) proteins. The fusion proteins have functional features that differ from the corresponding wild-type proteins and mostly play a role in leukemogenesis. In addition to the new features of the fusion protein, loss of wild-type activity due to the translocation (in some translocations enhanced by deletion of the second allele) might contribute to oncogenesis. Alternatively, chromosome translocations can result in deregulated expression of (onco)genes as a direct consequence of a translocation to a regulatory element, for example, an immunoglobulin (Ig) or T-cell receptor (TCR) enhancer. 2,3 The most frequent translocations in precursor-B-ALL are t(1;19)(q23;p13) t(4;11)(q21;q23), t(12;21)(p13;q22), and t(9;22)(q34;q11), all four of which result in generation of fusion genes. The t(1;19)(q23;p13) fuses the transcription factorencoding gene TCF3 (E2A) with the transcription factor PBX1. In t(4;11)(q21;q23), the MLL gene at 11q23, which encodes a putative DNA-binding protein, is translocated to the MLLT2 (AF4) gene. The MLL gene is involved in many other translocations in ALL and acute myeloid leukemia (AML). Until now, more than 30 partner genes have been identified. 4 The t(12;21)(p13;q22) involves th...

show abstract

Section: Technical Aspects Of the New Fish Procedures Using Pna-based mentioning

confidence: 99%

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Burg

Poulsen²,

Hunger

et al. 2004

Leukemia

View full text Add to dashboard Cite

show abstract

“…Mammalian DNA contains several families of highly repeated sequences, some of which have been suggested to be mobile elements (21)(22)(23). Part of the evidence for this notion is based on the finding that these elements, such as SINE and LINE (24), are bounded by direct repeats of 7-20 base pairs (bp), similar to the integrated provirus of the retroviruses. On the other hand, in contrast to IAP or proviruses, the SINE or LINE elements do not contain symmetrical termini at their ends (terminal repeats) but contain in one of their ends a poly(A)-rich tail, suggesting their origin in mRNA (25).…”

mentioning

confidence: 99%

"Retroposon" insertion into the cellular oncogene c-myc in canine transmissible venereal tumor.

Katzir¹,

Rechavi²,

Cohen³

et al. 1985

Proc. Natl. Acad. Sci. U.S.A.

112

View full text Add to dashboard Cite

We examined by Southern blotting the state of the cellular oncogene c-myc In the dog transmissible venereal tumor. The tumor DNA contains a 16.8-kilobase pair (kbp) rearranged c-myc fragment in addition to the normal 15-kbp and 7.5-kbp fragments. We compared the structure of the cloned rearranged c-myc (rc-myc) with that of a cloned normal c-myc and found that the rearrangement was due to the insertion of a 1.8-kbp DNA upstream to the first exon of c-myc. The inserted DNA is flanked by 10-base-pair direct repeats and contains a dA-rich tail, suggesting its origin from mRNA. Partial sequence of the inserted element showed 62% homology with the primate interdispersed Kpn I repetitive element. These results provide an example for the behavior of repetitive DNA sequences like the Kpn I family, as movable elements that can transpose nearby to oncogenes or other structural genes and perhaps affect their activity.

show abstract

“…LIMd family members range up to 7 kb in length (17) and are homologous to the primate LI family, previously called the Kpn I family (18,19), which has also been characterized in some detail (see ref. 13 and references therein). Transcripts from portions of these large repeats have been detected in both mice (11,16,20) and primates (19,(21)(22)(23).…”

mentioning

confidence: 99%

“…Structural investigations have revealed two basic types of interspersed repetitive families, short and long (reviewed in ref. 13). Mem-bers of the short families tend to be <500 base pairs (bp) long and are represented upwards of 105 times in the genome.…”

mentioning

confidence: 99%

See 1 more Smart Citation

A large interspersed repeat found in mouse DNA contains a long open reading frame that evolves as if it encodes a protein.

Martin¹,

Voliva²,

Burton³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

DNA sequence analysis of a region contained within a large, interspersed repetitive family of mice reveals a long open reading frame. This sequence extends 978 base pairs between two stop codons, creating a reading frame that is open for 326 amino acids. The DNA sequence in this region is conserved between three distantly related Mus species, as well as between mouse and monkey, in a manner that is characteristic of regions undergoing selection for protein function.Interspersed repetitive elements are ubiquitous in the DNA of higher eukaryotes. They are found in organisms as diverse as frogs (1), sea urchins (2), flies (3), birds (4), rodents (5), and humans (6); nevertheless, the reason for their existence is not understood. Hypotheses concerning their contribution to the normal patterns of gene expression in differentiated cells range from a model in which they are seen as the main perpetrators of regulation (7,8) (11,16,20) and primates (19,(21)(22)(23) 2308The publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.

show abstract

SINEs and LINEs: Highly repeated short and long interspersed sequences in mammalian genomes

Cited by 422 publications

References 0 publications

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

Split-signal FISH for detection of chromosome aberrations in acute lymphoblastic leukemia

"Retroposon" insertion into the cellular oncogene c-myc in canine transmissible venereal tumor.

A large interspersed repeat found in mouse DNA contains a long open reading frame that evolves as if it encodes a protein.

Contact Info

Product

Resources

About