A FANCD2 domain activates Tip60-dependent apoptosis.

Cell Biol Int

Department of Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239-3098, USA.

Published: September 2010

The FA (Fanconi anaemia) FANCD2 protein is pivotal in the cellular response to DNA interstrand cross-links. Establishing cells expressing exogenous FANCD2 has proven to be difficult compared with other DNA repair genes. We find that in transformed normal human fibroblasts, exogenous nuclear expression of FANCD2 induces apoptosis, dependent specifically on exons 10-13. This is the same region required for interaction with the histone acetyltransferase, Tip60. Deletion of exons 10-13 from FANCD2 N-terminal constructs (nucleotides 1-1100) eliminates the binary interaction with Tip60 and the cellular apoptotic response; moreover, cells can stably express FANCD2 at high levels if Tip60 is depleted. The results indicate that FANCD2-sponsored apoptosis requires an interaction with Tip60 and depends on Tip60.

Download full-text PDF

Source
http://dx.doi.org/10.1042/CBI20090251DOI Listing

Publication Analysis

Top Keywords

exons 10-13
8
interaction tip60
8
fancd2
6
tip60
5
fancd2 domain
4
domain activates
4
activates tip60-dependent
4
tip60-dependent apoptosis
4
apoptosis fanconi
4
fanconi anaemia
4

Similar Publications

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.

Hum Genomics

September 2024

The Second School of Medicine, Guangxi Medical University, No. 166, Daxuedong Road, Xixiangtang District, Nanning, Guangxi Zhuang Autonomous Region, 530007, China.

Article Synopsis
  • Scientists studied changes in the DMD gene, which can cause Duchenne and Becker muscular dystrophy, to understand how they affect people differently.
  • They looked at two families with different DMD gene changes and used special techniques to see those changes clearly.
  • The study found that one family had a gene change but no symptoms, while the other family showed serious symptoms, helping researchers learn more about how these changes can impact health.
View Article and Find Full Text PDF

The enzyme choline acetyltransferase (ChAT) synthesizes acetylcholine from acetyl-CoA and choline at the neuromuscular junction and at the nerve terminals of cholinergic neurons. Mutations in the ChAT gene () result in a presynaptic congenital myasthenic syndrome (CMS) that often associates with life-threatening episodes of apnea. Knockout mice for die at birth.

View Article and Find Full Text PDF

Colorectal cancer is the second leading cause of cancer-related deaths in women and men in Algeria. Lynch syndrome (LS) is an autosomal dominant disease caused by heterozygous germline pathogenic variants in mismatch repair genes (MMR) and frequently predisposes to colorectal cancer. However, data about MMR germline pathogenic variants in Algerian patients are limited.

View Article and Find Full Text PDF

Background: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the gene. In this study, we screened and identified the mutations among unrelated Vietnamese pediatric patients.

Methods: One-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited.

View Article and Find Full Text PDF

Background: Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfate sulfatase (GALNS) gene. The mutation spectrum in this condition is determined amongst sub-populations belonging to the north, south and east India geography, however, sub-populations of west Indian origin, especially Gujarati-Indians, are yet to be studied. We aimed to analyse the variants present in the GLANS gene amongst the population of Gujarat by sequencing all exons and exon-intron boundaries of the GALNS gene in patients from 23 unrelated families.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!