t(11;19)(q23;p13.3) KMT2A/ACER1

2009-04-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Acute lymphocytic leukemia (ALL)

Epidemiology

Only one case to date, a case of congenital leukemia (Lo Nigro et al., 2002).

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
36 exons, multiple transcripts 13-15 kb.
Protein description
3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a CXXC domain), a DNA methyl transferase motif, a bromodomain. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus, called MLL-N and MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID. MLL is a transcriptional regulatory factor. MLL can be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development.
Gene name
ACER1 (alkaline ceramidase 1)
Location
19p13.3
Protein description
ACER1 is the alkaline ceramidase 1. Ceramidases catalyze hydrolysis of ceramide to generate sphingosine (SPH), which is phosphorylated to form sphingosine-1-phosphate (S1P). Ceramide, SPH, and S1P are bioactive lipids that mediate cell proliferation, differentiation, apoptosis, adhesion and migration (Mao and Obeid, 2008).

Result of the Chromosomal Anomaly

Description

5 MLL - 3 ACER1; fusion of MLL intron 8 to ACER1.

Bibliography

Pubmed IDLast YearTitleAuthors
186195552008Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate.Mao C et al

Citation

Jean-Loup Huret

t(11;19)(q23;p13.3) KMT2A/ACER1

Atlas Genet Cytogenet Oncol Haematol. 2009-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1540/t(11;19)(q23;p13-3)

External Links