Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2010 Apr 9;86(4):650-2; author reply 652-3.
doi: 10.1016/j.ajhg.2009.12.019.

The LCR at the IKBKG locus is prone to recombine

Comment

The LCR at the IKBKG locus is prone to recombine

Francesca Fusco et al. Am J Hum Genet. .
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
An Example of NAHR between L1 and L2 Causing a Pathological Allele Is Reported: The Case Represents the IKBKG Locus in an IP Family The unaffected mother (I:2) carrying the exon4_10 deletion in the IKBKGP pseudogene is reported. The IP patient (II:1) carrying the pathogenic deletion in the gene (exon4_10 deletion) is reported. The misalignment between the two LCRs, L1 and L2, produces the intrachromosomal recombination transferring the exon4_10 del deletion (ΔExon4_10) from the pseudogene to the gene in the recombinant allele.

Comment on

References

    1. Vandewalle J., Van Esch H., Govaerts K., Verbeeck J., Zweier C., Madrigal I., Mila M., Pijkels E., Fernandez I., Kohlhase J. Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am. J. Hum. Genet. 2009;85:809–822. - PMC - PubMed
    1. Sebban H., Yamaoka S., Courtois G. Posttranslational modifications of NEMO and its partners in NF-kappaB signaling. Trends Cell Biol. 2006;16:569–577. - PubMed
    1. Fusco F., Mercadante V., Miano M.G., Ursini M.V. Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. Gene. 2006;383:99–107. - PubMed
    1. Galgóczy P., Rosenthal A., Platzer M. Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene. Gene. 2001;271:93–98. - PubMed
    1. van Loo G., De Lorenzi R., Schmidt H., Huth M., Mildner A., Schmidt-Supprian M., Lassmann H., Prinz M.R., Pasparakis M. Inhibition of transcription factor NF-kappaB in the central nervous system ameliorates autoimmune encephalomyelitis in mice. Nat. Immunol. 2006;7:954–961. - PubMed

Substances