Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia

The mechanism of X-inactivation in man is thought to involve a specific cis-acting locus within the X-inactivation centre at Xq13 (1, 2). The XIST gene (X inactive specific transcript) at Xq13 is ubiquitously expressed only from the inactive X and as such may be involved In or influenced by the X-in...

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Bibliographic Details
Published in:Human molecular genetics 1994-07, Vol.3 (7), p.1053-1059
Main Authors: Rack, K. A., Chelly, J., Gibbons, R. J., Rider, S., Benjamin, D., Lafrenlère, R. G., Oscier, D., Hendriks, R. W., Craig, I. W., Willard, H. F., Monaco, A. P., Buckle, V. J.
Format: Article
Language:English
Subjects:
Anemia, Refractory, with Excess of Blasts - genetics
Base Sequence
Biochemistry, Molecular Biology
Biological and medical sciences
Chromosome Aberrations
deletion
DNA Replication
DNA, Neoplasm - genetics
Dosage Compensation, Genetic
expression
Female
Gene Deletion
Gene Expression Regulation, Leukemic
Genes
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
leukemia
Leukemia, Monocytic, Acute - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Life Sciences
man
Medical sciences
Molecular Sequence Data
Polymerase Chain Reaction
RNA, Long Noncoding
RNA, Untranslated
Transcription Factors - deficiency
Transcription Factors - genetics
X chromosome
X Chromosome - ultrastructure
X-chromosome inactivation
Xist gene
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Summary:The mechanism of X-inactivation in man is thought to involve a specific cis-acting locus within the X-inactivation centre at Xq13 (1, 2). The XIST gene (X inactive specific transcript) at Xq13 is ubiquitously expressed only from the inactive X and as such may be involved In or influenced by the X-inactivation process (3, 4). We have localised the breakpoints on two acquired isodicentric X chromosomes associated with leukaemia to a 450 kilobase region of DNA within Xq13, which result in deletion of the XIST gene. We have demonstrated that these chromosomes remain inactive and that there is no evidence of XIST expression from the remaining intact X chromosomes. The data suggest that XIST is not required for the maintenance of X-inactivation on these somatically rearranged X chromosomes.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/3.7.1053