A 3.1-Mb YAC contig within the Werner syndrome region, on the short arm of human chromosome 8

Chaffanet, Max; Imbert, Alexandra; Adélaı̈de, José; Paslier, Denis Le; Wagner, Michael J.; Wells, Dagan; Birnbaum, Daniel; Pébusque, Marie‐Josèphe

doi:10.1159/000134164

Cited by 15 publications

(10 citation statements)

References 13 publications

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“…The assignment of 10 new ESTS markers to the C region of chromosome 8, and their inte gration within the physical and genetic maps we have con structed (Dib et al, 1995;Chaffanet et al. 1996;Imbert et al, 1996) will provide novel candidate genes for the inherited dis eases associated with this region.…”

Section: Resultsmentioning

confidence: 94%

Regional assignment of 64 human gene transcripts on chromosome 8

Ugolini

Chaffanet²,

Houlgatte³

et al. 1997

Cytogenet Genome Res

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A panel of somatic cell hybrids specific for human chromosome 8 was used to localize 64 expressed sequence-tagged site (ESTS) markers to six individual regions by PCR amplification. Nine ESTS correspond to 8 known human genes and 6 others show similarities with vertebrate genes, whereas the remaining 49 ESTS markers correspond to novel genes with no database similarities. These gene transcript markers will contribute to the developing physical and expression maps of chromosome 8, and to the search for candidate genes for various human diseases.

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Section: Resultsmentioning

confidence: 94%

Regional assignment of 64 human gene transcripts on chromosome 8

Ugolini

Chaffanet²,

Houlgatte³

et al. 1997

Cytogenet Genome Res

Self Cite

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“…Two-color FISH experiments were done on metaphase chromosome spreads from normal human male lymphocytes and from SCID t(8;13) as described (24), with the following modifications: cosmid and plasmid DNA probes were labeled by nick-translation with 16-dUTP biotin (BRL͞ Life Technologies) and digoxigenin-11-dUTP (Boehringer Mannheim), respectively. Plasmid probe (300 ng) in combination with two biotinylated cosmid probes (150 ng for each) were incubated on metaphase spreads and washed at low stringency (50% formamide͞2ϫ standard saline citrate and 2ϫ standard saline citrate at 42°C).…”

Section: Methodsmentioning

confidence: 99%

“…Plasmid probe (300 ng) in combination with two biotinylated cosmid probes (150 ng for each) were incubated on metaphase spreads and washed at low stringency (50% formamide͞2ϫ standard saline citrate and 2ϫ standard saline citrate at 42°C). Immunofluorescence detection and image processing were done as described (24).…”

Section: Methodsmentioning

confidence: 99%

Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12)

Popovici

Adélaı̈de

Ollendorff

et al. 1998

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

142

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Chromosome 8p11-12 is the site of a recurrent breakpoint in a myeloproliferative disorder that involves lymphoid (T-or B-cell), myeloid hyperplasia and eosinophilia, and evolves toward acute leukemia. This multilineage involvement suggests the malignant transformation of a primitive hematopoietic stem cell. In this disorder, the 8p11-12 region is associated with three different partners 6q27, 9q33, and 13q12. We describe here the molecular characterization of the t(8;13) translocation that involves the FGFR1 gene from 8p12, encoding a tyrosine kinase receptor for members of the fibroblast growth factor family, and a gene from 13q12, tentatively named FIM (Fused In Myeloproliferative disorders). FIM is related to DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1; this defines a gene family involved in different human pathologies. The two reciprocal fusion transcripts, FIM͞FGFR1 and FGFR1͞FIM are expressed in the malignant cells. The FIM͞FGFR1 fusion protein contains the FIM putative zinc finger motifs and the catalytic domain of FGFR1. We show that it has a constitutive tyrosine kinase activity.

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“…The series of YAC clones specific for genes and polymorphic loci defined in previous work Chaffanet et al, 1996;Imbert et al, 1996) was used. In addition, eight YACs were included in the map.…”

Section: Yacs and Markersmentioning

confidence: 99%