H.J. Eyre

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation

Clive Hunt, H.J. Eyre, Patrick Anthony Akkari, C.M. Meredith et autres

A sequence tagged site (STS) was developed for the human beta tropomyosin gene (TPM2). The STS was used to amplify DNA from somatic cell hybrids to localise TPM2 to human chromosome 9. Genomic clones isolated with the STS product were in turn …

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Assignment of the human α-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization

Steve Donald Wilton, L. Lim, S.D. Dorosz, H.C. Gunn et autres

Sequence-tagged sites (STSs) were developed for the human alpha-tropomyosin gene TPM4. One STS was used to amplify DNA from somatic cell hybrids to localize TPM4 to chromosome 19. The other, a product from a long-range PCR, was used directly as a probe …

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Assignment of the human α-tropomyosin gene TPM3 to 1q22→q23 by fluorescence in situ hybridisation

Steve Donald Wilton, H.J. Eyre, Patrick Anthony Akkari, Hugh C Watkins et autres

The human tropomyosin 3 (TPM3) gene was previously localized to chromosome 1. The non-muscle isoform of the TPM3 gene product becomes fused to a gene product from the tyrosine kinase receptor gene (NTRK1), previously localized to 1q23-->q24, to generate an active oncogene. …

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Assignment of the human skeletal muscle α-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization

H.J. Eyre, Patrick Anthony Akkari, Steve Donald Wilton, D.C. Callen et autres

A sequence-tagged site (STS) was developed for the human skeletal muscle alpha-tropomyosin gene (TPM1) and used to isolate a genomic clone, lambda TPM1.1, containing part of the TPM1 gene. Fluorescence in situ hybridization of this clone to metaphase chromosome spreads localised TPM1 …

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The human OTF1 locus which overlaps the CD3Z gene is located at 1q22→q23

Richard A. Sturm, H.J. Eyre, Elizabeth K. Baker, George R. Sutherland

The human OTF1 locus encoding the Oct-1 protein has previously been mapped to chromosome 1 cen-->q32 by analysis of somatic cell hybrids. We report here the regional localization of OTF1 to 1q22-->q23 by fluorescence in situ hybridization. The physical linkage of the …

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Dr. John L. Hamerton steps-down from the Associate Editorship

Steve Donald Wilton, H.J. Eyre, Patrick Anthony Akkari, Hugh C Watkins et autres

Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation

Patrick Anthony Akkari, H.J. Eyre, Steve Donald Wilton, David Frederick Callen et autres

The human skeletal muscle alpha actin gene (ACTA1) has previously been localized to 1p21-->qter using somatic cell hybrids and a specific probe from the 3' untranslated region of the gene. Using fluorescence in situ hybridization the localization has been confirmed and the …

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Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review

Shuancang Yu, Elizabeth G. Baker, Lyn Hinton, H.J. Eyre et autres

Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review. Unbalanced subtelomere chromosome rearrangements are a significant cause of mental retardation with approximately 5% of over 3000 affected individuals tested worldwide having a chromosome rearrangement of this …

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Two novel mucin genes down-regulated in colorectal cancer identified by differential display.

Stephanie J. Williams, Michael A. McGuckin, David C. Gotley, H.J. Eyre et autres

Epithelial mucins are large, secreted and cell surface glycoproteins involved in epithelial cell protection, adhesion modulation, and signaling. Using differential display, we have identified two novel mucin cDNAs (dd34 and dd29), hereafter designated MUC11 and MUC12, respectively, that are down-regulated in colorectal …

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High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

Yuqiang Fang, Sharon M. Bain, Eric Haan, H.J. Eyre et autres

Wolf-Hirschhorn syndrome (WHS) caused by 4p16.3 deletions comprises growth and mental retardation, distinct facial appearance and seizures. This study characterized a subtle interstitial deletion of 4p16.3 in a girl with mild retardation and possessing facial traits characteristic of WHS. The patient had …

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Rapid detection of euchromatin by Alu-PRINS: use in clinical cytogenetics

David Frederick Callen, M.-Y. Yip, H.J. Eyre

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Inherited diseases of skeletal and cardiac muscle associated with contractile proteins

Nigel G. Laing, Steve Donald Wilton, Patrick Anthony Akkari, S.M. Dorosz et autres