Literature DB >> 19172993

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.

Litu Zhang1, Zeynep Tümer, Kjeld Møllgård, Gotthold Barbi, Eva Rossier, Eske Bendsen, Rikke Steensbjerre Møller, Reinhard Ullmann, Jian He, Nickolas Papadopoulos, Niels Tommerup, Lars Allan Larsen.   

Abstract

The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.

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Year:  2009        PMID： 19172993      PMCID： PMC2986559          DOI： 10.1038/ejhg.2008.269

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  25 in total

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Journal:  Nature       Date:  2000-02-17       Impact factor: 49.962

2.  Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt.

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4.  Molecular characterization of genomic AML1-ETO fusions in childhood leukemia.

Authors:  Z Xiao; M F Greaves; P Buffler; M T Smith; M R Segal; B M Dicks; J K Wiencke; J L Wiemels
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6.  t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1.

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  14 in total

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7.  RUNX1T1, a potential prognostic marker in breast cancer, is co-ordinately expressed with ERα, and regulated by estrogen receptor signalling in breast cancer cells.

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10.  Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.

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