Isolation of Cosmid and cDNA Clones in the Region Surrounding the BTK Gene at Xq21.3-q22

Vořechovský, Igor; Vetrie, David; Holland, Jill; Bentley, David; Thomas, Karen; Zhou, Jian; Notarangelo, Luigi D.; Plebani, Alessandro; Fontán, Gumorsindo; Ochs, Hans D.; Hammarström, Lennart; Sideras, Paschalis; Smith, Charlotte

doi:10.1006/geno.1994.1310

Cited by 38 publications

(15 citation statements)

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“…This clone contains the microsatellite marker D9S287, which has been localized to chromosome 9q22.3 (11). The isolation of YAC DNA and hybridization was performed as described elsewhere (12). The localization of the cosmids was confirmed by hybridization to YAC ICI-2ef8 resolved by means of pulsed-field gel electrophoresis (data not shown).…”

Section: Methodsmentioning

confidence: 99%

A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities

Hahn

Christiansen

Wicking

et al. 1996

Journal of Biological Chemistry

192

121

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Drosophila patched is a segment polarity gene required for the correct patterning of larval segments and imaginal discs during fly development and has a close functional relationship with hedgehog. We have isolated a complete human PATCHED cDNA sequence, which encodes a putative protein of 1296 amino acids, and displays 39% identity and 60% similarity to the Drosophila PATCHED protein. Hydropathy analysis suggests that human PATCHED is an integral membrane protein with a pattern of hydrophobic and hydrophilic stretches nearly identical to that of Drosophila patched. In the developing mouse embryo, patched is initially detected within the ventral neural tube and later in the somites and limb buds. Expression in the limb buds is restricted to the posterior ectoderm surrounding the zone of polarizing activity. The results show that patched is expressed in target tissues of sonic hedgehog, a murine homolog of Drosophila hedgehog suggesting that patched/hedgehog interactions have been conserved during evolution. Human PATCHED maps to human chromosome 9q22.3, the candidate region for the nevoid basal cell carcinoma syndrome. Patched expression is compatible with the congenital defects observed in the nevoid basal cell carcinoma syndrome.

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Section: Methodsmentioning

confidence: 99%

A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities

Hahn

Christiansen

Wicking

et al. 1996

Journal of Biological Chemistry

192

121

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“…Tumour DNA samples were isolated from fresh tumour tissues stored at 71358C before extraction. RNA extraction and the ®rst-strand cDNA synthesis was performed as previously described (VorÏ echovskyÂ et al, 1994).…”

Section: Nucleic Acid Extractionmentioning

confidence: 99%

Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours

et al. 1997

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The naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple developmental defects and cancer susceptibility, in particular to basal cell carcinomas (BCCs). Medulloblastomas, primitive neuroectodermal tumours (PNETs) arising in childhood, occur in about 3 ± 5% of NBCCS patients and a subset of PNETs was previously found with allelic imbalance at 9q22-q23, the region containing the gene for NBCCS (PTCH). We have analysed tumour DNA samples from 37 unrelated patients with sporadic PNETs and ®ve medulloblastoma cell lines for PTCH mutations using an exon-by-exon single strand conformation polymorphism assay. We found three missense mutations, which aect conserved residues in transmembrane domains of the gene product and in the extracellular loop implicated in binding sonic hedgehog, one 2 bp deletion and an exon skipping splice site mutation. Most mutations were associated with the absence of the wild-type allele and were found in tumours exhibiting loss of heterozygosity (LOH) at locī anking PTCH. The ®nding of LOH at 9q22-q23 in most mutated tumours while present in only three out of 26 tumours, in which a mutation was not identi®ed, implicates PTCH as the target gene in PNETs with LOH at 9q22-q23 and de®cient PTCH in the development of a subset of these tumours. Since all observed mutations were absent in the germ-line, a sporadic medulloblastoma developing as the ®rst symptom of NBCCS is likely to be a very uncommon event.

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“…Searches for proteins with identity to the found sequences were performed as described in Materials and Methods, using available public databases. Proteins showing the highest identities are listed in Table 1 [23,[27][28][29]. The sequence (HTGPNSPDTA) was 100% identical to sequences in human hnRNP H, hnRNP H' and ORF-FTP-3.…”

Section: Sequence Analysis Of the Common Nuclear-matrix Proteinsmentioning

confidence: 99%

Identification of Human Common Nuclear‐Matrix Proteins as Heterogeneous Nuclear Ribonucleoproteins H and H′ by Sequencing and Mass Spectrometry

Holzmann

Korosec

Gerner

et al. 1997

European Journal of Biochemistry

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Nuclear-matrix proteins were prepared from different rat and human cells and separated by twodimensional gel electrophoresis. By computer-assisted analysis of the images, two of the proteins were identified as ubiquitously occurring (common) nuclear-matrix proteins, which appeared in tissue-dependent concentrations. The two proteins that originated from human blood mononuclear cells were analyzed further. Tryptic digests of the blotted proteins were analyzed by partial peptide sequencing and matrixassisted laser-desorption ionization-time-of-flight mass spectrometry. The two human common nuclearmatrix proteins were identified as heterogeneous nuclear ribonucleoproteins (hnRNP) H and H' or their variants. Furthermore, mass analysis revealed details on the N terminus of hnRNP H.Keywords: nuclear matrix ; common nuclear-matrix protein ; heterogeneous nuclear ribonucleoprotein ; tissue specificity ; peptide sequencing.The nuclear matrix is operationally defined as the residual nuclear structure that is yielded by sequential treatment of isolated nuclei with detergents, nucleases and buffers of high ionic strength 11 1. It is considered to represent the three-dimensional fibrillar protein structure constituting the framework of the interphase nucleus. In addition to its role in maintaining the nuclear architecture and the higher order structure of chromatin, the nuclear matrix has been reported as being involved in various nuclear activities, such as DNA replication, DNA transcription, RNA processing and steroid-hormone action. Studies on selected cell types and tissues have indicated that some nuclearmatrix proteins are cell and differentiation specific, while others are shared among various cell types [2]. Stuurman et al. [3] have presented evidence for the presence of a common set of polypeptides termed minimal matrix proteins in the nuclear matrices of mouse cells. Nakayasu and Berezney [4] have reported that eight proteins named nuclear matrins are major constituents of the internal nuclear matrix of rat liver cells. Belgrader et al. were the first to determine the sequence of a defined nuclear-matrix protein, matrin 3, by cloning and sequencing [5]. The detection of other common nuclear-matrix proteins, such as nuclear lamin B [3, 41, nucleolar protein B23 [3, 41, or the nuclear-mitotic apparatus protein [6, 71, was mainly based on immunological methods. However, the number and identity of common nuclearmatrix proteins have not been established unequivocally (reviewed in [8, 91).In systematic studies, we are investigating the nuclear-matrix proteins of various human and rat cells and tissues. ComputerCorrespondence to G. Sauermann,

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Isolation of Cosmid and cDNA Clones in the Region Surrounding the BTK Gene at Xq21.3-q22

Cited by 38 publications

References 0 publications

A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities

A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities

Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours

Identification of Human Common Nuclear‐Matrix Proteins as Heterogeneous Nuclear Ribonucleoproteins H and H′ by Sequencing and Mass Spectrometry

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