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MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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Related Experiment Video

Updated: May 21, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
08:53

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.

Caterina Iofrida1, Erika Melissari, Veronica Mariotti

  • 1Department of Experimental Pathology, Medical Biotechnology, Epidemiology and Infectious Diseases, University of Pisa, Italy.

BMC Cancer
|June 1, 2012
PubMed
Summary
This summary is machine-generated.

Two BRCA1 missense variants, M1775R and A1789T, impact cell transcriptome, affecting cancer pathways. This study provides molecular evidence for their role in breast cancer pathogenesis.

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Last Updated: May 21, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Published on: February 17, 2011

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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • BRCA1 (breast cancer 1, early onset) missense mutations are linked to familial cancers.
  • The pathogenic role of specific BRCA1 variants, like M1775R and A1789T in the BRCT domain, requires molecular elucidation.
  • Previous yeast transcriptome studies suggested a role for these variants in breast cancer pathogenesis.

Purpose of the Study:

  • To investigate the molecular mechanisms of BRCA1 missense variants M1775R and A1789T in human cells.
  • To determine the impact of these variants on gene expression profiles.
  • To provide molecular evidence for the pathogenetic role of these BRCA1 variants.

Main Methods:

  • Human Whole Genome Microarrays were used to compare gene expression profiles.
  • HeLa cells were transfected with wild-type BRCA1, M1775R variant, or A1789T variant.
  • Differential gene expression analysis was performed comparing variants to wild-type and the mutated BRCT domain to wild-type.

Main Results:

  • 201 differentially expressed genes were identified for M1775R vs. wild-type.
  • 313 differentially expressed genes were identified for A1789T vs. wild-type.
  • The majority of altered genes were involved in cancer-related pathways, including cell cycle and DNA repair.

Conclusions:

  • This study offers the first molecular evidence supporting the pathogenetic role of the BRCA1 M1775R variant.
  • Findings support a similar pathogenetic role for the BRCA1 A1789T variant.
  • Results align with the BRCT domain's established role in BRCA1 tumor suppressor activity.