Flowchart: Preparation: Cp2








Text Box: Cp2                                                                                      


Alzheimer’s Disease

Down syodrome

Text Box: Gata1




Dement Geriatr Cogn Disord. 2006;22(1):95-8. Epub 2006 May 18.

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Association of Polymorphism in the Transcription Factor LBP-1c/CP2/LSF Gene with Alzheimer's Disease and Major Depression.

Schahab S, Heun R, Schmitz S, Maier W, Kolsch H.

Department of Psychiatry, University of Bonn, Bonn, Germany.

The transcription factor LBP-1c/CP2/LSF (LBP-1c) is a candidate gene for Alzheimer's disease (AD) because it is located in a putative hotspot for an AD risk gene on chromosome 12. We investigated the effect of LBP-1c polymorphism on the risk of AD in 162 AD patients, 180 patients with major depression as hospitalized controls and 225 healthy subjects. We observed no significant association of the LBP-1c A allele with AD. Nor did we detect an interaction of the LBP-1c A allele with the apolipoprotein E4 (ApoE4) allele or the low-density lipoprotein receptor-related protein T allele which could have been related to the risk of AD. However, exploratory data analysis revealed that the LBP-1c A allele might act as a protective factor in major depression. A recent study also described an association of another gene located on chromosome 12, the mannose 6-phosphatase receptor gene, with major depression. These data suggest the presence of a putative risk gene for major depression at chromosome 12. Copyright (c) 2006 S. Karger AG, Basel.

PMID: 16710089 [PubMed - in process]




J Pediatr. 2006 May;148(5):687-9.

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Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder.

Cushing T, Clericuzio CL, Wilson CS, Taub JW, Ge Y, Reichard KK, Winter SS.

Department of Pediatrics, Division of Genetics and Metabolism, Stanford University Medical Center, Stanford, California, USA.

Transient myeloproliferative disorder (TMD) occurs in 10% of infants with Down syndrome (DS). Down syndrome infants with resolved TMD may later develop acute megakaryocytic leukemia (AMKL). In these patients, AMKL is associated with somatic mutations in the X-linked transcription factor gene, GATA1. AMKL also has been described after TMD in children without DS. We report on a non-DS child identified with trisomy 21 mosaicism and a GATA1 mutation in the original blast cells who has been followed for 2 years without exhibiting AMKL. Currently, the risk for such infants developing acute leukemia is uncertain. We recommend that nondysmorphic infants with TMD undergo chromosome analysis for trisomy 21 and testing for GATA1 mutations to aid surveillance for leukemic transformation.

Publication Types:

·         Case Reports

PMID: 16737888 [PubMed - indexed for MEDLINE


Mol Cell Biol. 2006 May;26(10):3942-54.

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Functional interaction of CP2 with GATA-1 in the regulation of erythroid promoters.

Bose F, Fugazza C, Casalgrandi M, Capelli A, Cunningham JM, Zhao Q, Jane SM, Ottolenghi S, Ronchi A.

Dipartimento di Biotecnologie e Bioscienze, Universita di Milano-Bicocca, P.za della Scienza 2, 20126 Milano, Italy.

We observed that binding sites for the ubiquitously expressed transcription factor CP2 were present in regulatory regions of multiple erythroid genes. In these regions, the CP2 binding site was adjacent to a site for the erythroid factor GATA-1. Using three such regulatory regions (from genes encoding the transcription factors GATA-1, EKLF, and p45 NF-E2), we demonstrated the functional importance of the adjacent CP2/GATA-1 sites. In particular, CP2 binds to the GATA-1 HS2 enhancer, generating a ternary complex with GATA-1 and DNA. Mutations in the CP2 consensus greatly impaired HS2 activity in transient transfection assays with K562 cells. Similar results were obtained by transfection of EKLF and p45 NF-E2 mutant constructs. Chromatin immunoprecipitation with K562 cells showed that CP2 binds in vivo to all three regulatory elements and that both GATA-1 and CP2 were present on the same GATA-1 and EKLF regulatory elements. Adjacent CP2/GATA-1 sites may represent a novel module for erythroid expression of a number of genes. Additionally, coimmunoprecipitation and glutathione S-transferase pull-down experiments demonstrated a physical interaction between GATA-1 and CP2. This may contribute to the functional cooperation between these factors and provide an explanation for the important role of ubiquitous CP2 in the regulation of erythroid genes.

PMID: 16648487 [PubMed - indexed for MEDLINE]