t(6;11)(q13;q23) KMT2A/SMAP1

2007-10-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

Acute leukemia

Note

Only 2 cases to date; one of which was not further described.

Phenotype stem cell origin

One case was a M4 acute myeloid leukaemia.

Epidemiology

The patient was a 14 year old girl

Prognosis

Survival was 18 months in the only documented case.

Genes Involved and Proteins

Gene name
SMAP1 (stromal membrane-associated protein 1)
Location
6q13
Protein description
SMAP1 is a GTPase-activating protein (GAP) for Arf6.
Vesicle formation requires clathrin, its adaptors, and an enzymatic activity. This is given by small GTPase ADP-ribosylation factors (Arf; there is six Arfs, Arf1, Arf3, Arf2/Arf4, Arf5 and Arf6). Arf switches between a GTP-bound active state (regulated by guanine-nucleotide exchange factor (GEF)) and a GDP-bound inactive state (regulated by GTPase-activating protein (GAP)).
Arf6/SMAP1 regulates the clathrin dependent endocytosis of vesicles from the plasma membrane and the recycling of endosome to the plasma membrane.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Protein description
transcriptional regulatory factor; MLL may have yin-yang functions though actions of MLL-N and MLL-C (e.g. desacetylation/acetylation); MLL-N acts as a transcriptional repressor; 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, through regulation of HOX genes expression regulation ( HOXA9 in particular).

Result of the Chromosomal Anomaly

Description

5 MLL-3 SMAP1

Bibliography

Pubmed IDLast YearTitleAuthors
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
121191102002Cloning, characterization and chromosome mapping of the human SMAP1 gene.Marcos I et al
156267572005Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.Meyer C et al
165716802006SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network.Natsume W et al
156596522005A novel GTPase-activating protein for ARF6 directly interacts with clathrin and regulates clathrin-dependent endocytosis.Tanabe K et al

Citation

Jean-Loup Huret

t(6;11)(q13;q23) KMT2A/SMAP1

Atlas Genet Cytogenet Oncol Haematol. 2007-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1408/t(6;11)(q13;q23)-kmt2a-smap1

External Links