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Related Experiment Video

Updated: Jul 4, 2026

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

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

Published on: February 18, 2011

A partial BRCA1 sequence homology mapping to 4q28.

I Stec¹, M van Vliet, R van Eijk

¹Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. I.Stec@LUMC.nl

Cytogenetics and Cell Genetics

|November 10, 2001

Summary

Researchers identified a BRCA1-homologous region (BRCA1-h) on chromosome 4q28. Despite finding an open reading frame, no evidence suggests BRCA1-h is part of an expressed gene.

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Last Updated: Jul 4, 2026

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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

Area of Science:

Genetics
Molecular Biology

Background:

The BRCA1 gene is crucial for DNA repair and tumor suppression.
Genomic rearrangements and homologous sequences can impact gene function and disease risk.

Purpose of the Study:

To investigate a sequence homologous to BRCA1 identified on chromosome 4q28.
To characterize the nature and potential expression of this homologous region.

Main Methods:

Southern analysis using a BRCA1 cDNA probe.
Sequence contig assembly.
Open reading frame identification.
BLAST searches, RT-PCR, and RACE experiments.

Main Results:

A 348 bp sequence homologous to the 3' end of BRCA1 was detected on 4q28.
A 28-kb contig, designated BRCA1-h, was assembled around this homologous region.
An 82-amino acid open reading frame was identified within BRCA1-h, sharing high identity with BRCA1's C-terminus.
No evidence for BRCA1-h being part of an expressed gene was found.

Conclusions:

A novel pseudogene or homologous region of BRCA1, termed BRCA1-h, has been identified.
BRCA1-h does not appear to be transcribed, suggesting it may be a non-functional pseudogene.