Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

Couturier, Jérôme; Dutrillaux, Bernard; Garber, Pascale; Raoul, O; Croquette, Marie‐Françoise; Fourlinnie, J C; Maillard, E.

doi:10.1007/bf00569351

Cited by 63 publications

(22 citation statements)

References 13 publications

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“…In human constitutional pathology, various conditions were described: loss of the alternate inactiva tion of X chromosomes of paternal and maternal origin ; spreading of the late replication inactivation from the late replicating X to autosomal translocated segments (Couturier et al" 1979;Mohandas et al, 1981a, b); and change of the replication pattern of the late replicating X (Dutrillaux et al" 1976;Biémont et al, 1978). To our knowledge, a possible reactivation of the late replicating X has never been described, probably because a functional disomy of the X chromosome is very deleterious (Couturier and Dutrillaux.…”

Section: Discussionmentioning

confidence: 99%

A t(X;15)(q23;q25) with Xq reactivation in a lymphoblastoid cell line from Fanconi anemia

Kokalj-Vokac

Saint‐Ruf²,

Lefrançois³

et al. 1991

Cytogenet Genome Res

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A t(X;15)(q23;q25) was detected during cytogenetic investigation of a lymphoblastoid cell line established from a female patient with Fanconi anemia. The translocation was apparently balanced at passage 300 and unbalanced at passage 13. A chromatid exchange between both the normal and the der(15), between the centromere and band 15q25, may explain these results. Replication studies, following BrdU incorporation, indicate that the segment Xq23→qter from the der(15) is early replicating whereas segment Xpter→q23 from the der(X) is late replicating. Since the normal X was early replicating, it is concluded that the segment of the long arm of chromosome X, separated from its inactivation center by the translocation, was reactivated. This interpretation is conñrmed by the methylation patterns of the hypoxanthine phosphoribosyltransferase gene (HPRT), mapped on Xq26, which corresponds to that of an active gene, whereas that of phosphoglycerate kinase (PGK1), which remained on the der(X), corresponds to that of an inactive gene. This is the first example of reactivation of a segment of the X chromosome following a structural rearrangement in somatic cells.

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Section: Discussionmentioning

confidence: 99%

A t(X;15)(q23;q25) with Xq reactivation in a lymphoblastoid cell line from Fanconi anemia

Kokalj-Vokac

Saint‐Ruf²,

Lefrançois³

et al. 1991

Cytogenet Genome Res

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“…Band-sized regions of chromosomes replicate at different times in the cell cycle. Regions of chromosomes which replicate late in the cell cycle are be lieved to contain genes which are inactivated during differentiation [Couturier et al, 1979;Shafer and Priest, 1984], The X chromo somes in mammalian females provide the clearest example of this phenomenon, since one X chromosome in each somatic cell is inactivated and this is the chromosome which is known to replicate late in the cell cycle. Other studies have shown tissue spe cific differences in replication patterns that are associated with developmental differ ences in gene expression [Willard, 1977;Latt et al, 1981;Shafer and Priest, 1984], Differ ences in replication patterns between species would suggest that some regulatory genes were being activated differently across spe cies, while shared patterns would suggest common ancestry.…”

Section: Discussionmentioning

confidence: 99%

A Comparison of the Karyotypes of Six Species of the Genus Macaca and a Species of the Genus Cercocebus

Brown¹,

Dunbar²,

Shafer³

1986

IJFP

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Karyotypes from 72-hour whole blood cultures were compared for six species of macaques (Macaca arctoides, M. fascicularis, M. mulatta, M. nemestrina, M. nigra, and M. radiata) and one species of mangabey (Cercocebus atys). G-bands, sequential C-bands, and late replication patterns were studied. Results showed a variation in a single chromosome pair which differentiated C. atys from the macaques. Heteromorphic variation in silver stained nucleolar organizing regions was seen between and within individuals. This data supports previous work showing the highly conserved nature of the chromosomes of the subfamily Cercopithecus.

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“…One possibility is that each X-linked gene has associated with it specific sequences that are able to bind both activator and repressor proteins and that the combination of these sites for any single gene determines whether it will be subject to inactivation (5). However, analysis of human X;autosome translocations indicates that such putative gene-specific elements must not be restricted to X-linked genes, because autosomal genes that are translocated to the X chromosome can either remain active (6)(7)(8) or be inactivated (7,(9)(10)(11)(12). Further, expression analysis of autosomal transgenes inserted into the mouse X chromosome also implies that such gene-specific elements must be reasonably widespread in mammalian genomes (13,14).…”

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confidence: 99%

Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

Miller

Willard

1998

Proc. Natl. Acad. Sci. U.S.A.

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A number of genes have been identified that escape mammalian X chromosome inactivation and are expressed from both active and inactive X chromosomes. The basis for escape from inactivation is unknown and, a priori, could be a result of local factors that act in a gene-specific manner or of chromosomal control elements that act regionally. Models invoking the latter predict that such genes should be clustered in specific domains on the X chromosome, rather than distributed at random along the length of the X. To distinguish between these possibilities, we have constructed a transcription map composed of at least 23 distinct expressed sequences in an Ϸ5.5-megabase region on the human X chromosome spanning Xp11.21-p11.22. The inactivation status of these transcribed sequences has been determined in a somatic cell hybrid system and correlated with the position of the genes on the physical map. Although the majority of transcribed sequences in this region are subject to X inactivation, eight expressed sequences (representing at least six different genes) escape inactivation, and all are localized to within a region of less than 370 kb. Genes located both distal and proximal to this cluster are subject to inactivation, thereby defining a unique multigene domain on the proximal short arm that is transcriptionally active on the inactive X chromosome.

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Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

Cited by 63 publications

References 13 publications

A t(X;15)(q23;q25) with Xq reactivation in a lymphoblastoid cell line from Fanconi anemia

A t(X;15)(q23;q25) with Xq reactivation in a lymphoblastoid cell line from Fanconi anemia

A Comparison of the Karyotypes of Six Species of the Genus Macaca and a Species of the Genus Cercocebus

Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

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