Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma.

@article{Ingraham2006IdentificationAC,
  title={Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma.},
  author={Susan E. Ingraham and Roy A. Lynch and Urvashi Surti and Joni L. Rutter and Alan Buckler and Sohaib A. Khan and Anil G. Menon and Pierig Lepont},
  journal={Mutation research},
  year={2006},
  volume={602 1-2},
  pages={
          43-53
        }
}
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TLDR
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TLDR
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TLDR
The important role of EZH2-regulated DNA damage repair genes via histone methylation in fibroid biology is revealed and may provide novel therapeutic targets for the medical treatment of women with symptomatic uterine fibroids.
Running title: ROLE OF EZH2 IN DNA DAMAGE REPAIR
TLDR
The important role of EZH2-regulated DNA damage repair genes via histone methylation in fibroid biology is revealed and may provide novel therapeutic targets for the medical treatment of women with symptomatic uterine fibroids.
Functional genetics of hereditary and sporadic uterine leiomyomas
TLDR
The findings of this work demonstrated further differences between the pathobiology of HLRCC leiomyomas, compared to sporadic lesions, particularly with regard to the mechanisms of resistance to apoptosis of each tumour type.
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References

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Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies
Chromosomal translocations that target HMGA2 at chromosome band 12q14 are seen in a variety of malignancies, notably lipoma, pleomorphic salivary adenoma and uterine leiomyoma. Although some HMGA2
Translocation breakpoints upstream of the HMGIC gene in uterine leiomyomata suggest dysregulation of this gene by a mechanism different from that in lipomas
TLDR
The localization of translocation breakpoints in seven uterine leiomyomata from 10 to > 100 kb upstream of HMGIC is reported on by use of fluorescence in situ hybridization, suggesting a different pathobiologic mechanism in uterineLeiomyOMata from that in lipomas.
Fusion transcripts between the HMGIC gene and RTVL-H-related sequences in mesenchymal tumors without cytogenetic aberrations.
TLDR
In two pulmonary chondroid hamartomas from different patients and one uterine leiomyoma with apparently normal karyotypes, the authors found identical RTVL-H 3' LTRs fused as ectopic sequences to exon 3 of HMGI-C.
Sequencing of intron 3 of HMGA2 uncovers the existence of a novel exon
TLDR
expression studies revealed co‐expression of one of these transcripts with the normal transcript in tumors with 12q14‐15 aberrations as well as in other tumors, and in normal tissues, indicating that functional studies also should address the role of the HMGA2b transcript.
Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomas
TLDR
The results suggest that a fusion event, resulting in the separation of the DNA-binding domains of HMGIC from the spacer and the acidic carboxyl-terminal regulatory domain, is a common tumorigenic mechanism in the development of uterine myomas.
THREE ABERRANT SPLICING VARIANTS OF THE HMGIC GENE TRANSCRIBED IN UTERINE LEIOMYOMAS
TLDR
Identification of these novel variants suggested that aberrant splicing can join chromosomal translocation and inversion as a mechanism for producing abnormal HMGIC transcripts, and that separation of the DNA binding domains of H MGIC from its acidic carboxyl‐terminal regulatory domain can lead to development of benign mesenchymal tumors.
Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas.
TLDR
It is reported that the recombinational repair gene RAD51B on chromosome 14q23-24 is the preferential translocation partner of HMGIC in uterine leiomyomas and consistent chromosomal rearrangements within RAD 51B and expression of fusion transcripts are demonstrated, structurally resulting in an allelic knockout of the uterine isoform of RAD50B and confirming a pleiotropic function of this gene.
HMGI-C expression patterns in human tissues. Implications for the genesis of frequent mesenchymal tumors.
TLDR
Analysis of human tissue samples mainly of mesenchymal origin by a highly sensitive polymerase-chain-reaction-based approach suggests that HMGI-C is mainly expressed in human tissues during embryonal and fetal development, and its particular role for tumor development may be due to the expression of at least exons 1 to 3 rather than the formation of fusion transcripts.
Identification, molecular cloning, and characterization of the chromosome 12 breakpoint cluster region of uterine leiomyomas
TLDR
The studies strongly suggest that the uterine leiomyoma cluster region of chromosome 12 breakpoints is identified and isolated, which is designated ULCR12 and molecularly cloned and characterized the der(14) translocation junction in cells derived from a uterineLeiomyomas carrying the frequently observed t(12;14)(q15;q24).
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