TY - JOUR
T1 - NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma
AU - Roberts, Terry
AU - Chernova, Olga
AU - Cowell, John K.
N1 - Funding Information:
We are grateful to the CCF core sequencing facility for their assistance. This work was supported by NIH grant RO1 NS35791 and the Rose-Ella Burkhardt Endowment Fund.
PY - 1998/7
Y1 - 1998/7
N2 - Molecular cloning of the breakpoints of a t(1;10)(p22q21) constitutional translocation breakpoint in a patient with stage 4S neuroblastoma has identified two genes which are fused in-frame to generate a novel gene. The 1p22 gene, which we have called NB4S, encodes a 7.5 kb transcript with an 810 amino acid open reading frame and is expressed in a wide variety of tissues. NB4S has > 88% homology with the mouse EVI-5 gene within the coding region and shows strong homology over a 200 amino acid region with TBC1 box motif genes involved in cell growth and differentiation. The C-teminal end of the protein contains a number of coiled coil domains, indicating a possible protein-protein binding function. The chromosome 10 breakpoint interrupts a novel transcript (TRNG10) which could only be detected in tumor cells. This transcript has no exon/intron structure or significant open reading frame, suggesting that it is a structural RNA which is transcribed but not translated. The chromosome rearrangement creates a fusion gene product which combines the TBC1 motif of NB4S with a polyadenylation signal from TRNG10, potentially generating a truncated protein with oncogenic properties.
AB - Molecular cloning of the breakpoints of a t(1;10)(p22q21) constitutional translocation breakpoint in a patient with stage 4S neuroblastoma has identified two genes which are fused in-frame to generate a novel gene. The 1p22 gene, which we have called NB4S, encodes a 7.5 kb transcript with an 810 amino acid open reading frame and is expressed in a wide variety of tissues. NB4S has > 88% homology with the mouse EVI-5 gene within the coding region and shows strong homology over a 200 amino acid region with TBC1 box motif genes involved in cell growth and differentiation. The C-teminal end of the protein contains a number of coiled coil domains, indicating a possible protein-protein binding function. The chromosome 10 breakpoint interrupts a novel transcript (TRNG10) which could only be detected in tumor cells. This transcript has no exon/intron structure or significant open reading frame, suggesting that it is a structural RNA which is transcribed but not translated. The chromosome rearrangement creates a fusion gene product which combines the TBC1 motif of NB4S with a polyadenylation signal from TRNG10, potentially generating a truncated protein with oncogenic properties.
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U2 - 10.1093/hmg/7.7.1169
DO - 10.1093/hmg/7.7.1169
M3 - Article
C2 - 9618176
AN - SCOPUS:0031777019
SN - 0964-6906
VL - 7
SP - 1169
EP - 1178
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 7
ER -