Disruption of the SCL gene by a t(1;3) translocation in a patient with T cell acute lymphoblastic leukemia

J Exp Med. 1992 Nov 1;176(5):1303-10. doi: 10.1084/jem.176.5.1303.

Abstract

SCL gene disruptions are the most common chromosomal abnormality associated with the development of T cell acute lymphoblastic leukemia (ALL). Such disruptions can be the result of t(1;14) and t(1;7) translocations, as well as a cytogenetically undetectable interstitial deletion of chromosome 1. We present here a case of T cell ALL with a t(1;3)(p34;p21) translocation that also disrupts the SCL locus and leads to dysregulated SCL gene expression. This translocation, similar to previously reported SCL gene disruptions, appears to have been mediated, at least in part, by the V(D)J recombinase complex, since cryptic heptamer recognition sequences, as well as nontemplated N region nucleotide addition, are present at the breakpoints. The t(1;3) also disrupts a region on chromosome 3 characterized by alternating purine and pyrimidine residues, which can form a Z-DNA structure, reported to be prone to recombination events. A previously undescribed, evolutionarily conserved transcript unit is detected within 8 kb of the breakpoint on chromosome 3. This report extends the spectrum of recognized SCL translocations associated with T cell ALL, and underscores the contention that dysregulated SCL expression may be a causal event in T cell ALL.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Base Sequence
  • Basic Helix-Loop-Helix Transcription Factors
  • Child
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 3*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Rearrangement
  • Humans
  • Leukemia-Lymphoma, Adult T-Cell / genetics*
  • Male
  • Molecular Sequence Data
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogenes*
  • RNA, Messenger / analysis
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • Transcription Factors*
  • Translocation, Genetic*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • RNA, Messenger
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • Transcription Factors
  • TAL1 protein, human

Associated data

  • GENBANK/S46854
  • GENBANK/S46855
  • GENBANK/S46856
  • GENBANK/S46857
  • GENBANK/X70198
  • GENBANK/X70199
  • GENBANK/X70200
  • GENBANK/X70201
  • GENBANK/X70202
  • GENBANK/X70203