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C F Inglehearn - One of the best experts on this subject based on the ideXlab platform.

  • a yac contig spanning the dominant retinitis pigmentosa locus rp9 on Chromosome 7p
    Genomics, 1995
    Co-Authors: Jeffrey T Keen, Jean Weissenbach, C F Inglehearn, Eric D Green, Aimee F Cunningham, Reshma Patel, Rachel E Peacock, Steve Gerken, R White, S S Bhattacharya
    Abstract:

    The dominant retinitis pigmentosa locus RP9 has previously been localized to 7p13-p15, in the interval D7S526-D7S484. We now report refinement of the locus to the interval D7S795-D7S484 and a YAC contig of approximately 4.8 Mb spanning this region and extending both distally and proximally from it. The contig was constructed by STS content mapping and physically orders 29 STSs in 28 YAC clones. The order of polymorphic markers in the contig is consistent with a genetic map that has been assembled using haplotype data from the CEPH pedigrees. This contig will provide a primary resource for the construction of a transcriptional map of this region and for the identification of the defective gene causing this form of adRP.

  • autosomal dominant retinitis pigmentosa mapping to Chromosome 7p exhibits variable expression
    British Journal of Ophthalmology, 1995
    Co-Authors: R Y Kim, C F Inglehearn, A T Moore, M Jay, F W Fitzke, Geoffrey B Arden, S S Bhattacharya, A C Bird
    Abstract:

    The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to Chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near normal) electrophysiology and psychophysics; moderately affected with mild symptoms, abnormal electroretinograms, and equal loss of rod and cone function in affected areas of the retina; and severely affected with extinguished electroretinograms and barely detectable dark adapted static threshold sensitivities. The mutation in the gene on 7p causing adRP in this family causes regional retinal dysfunction with greatly variable expressivity ranging from normal to profoundly abnormal in a manner not explained by age.

  • a yac contig encompassing the Chromosome 7p locus for autosomal dominant retinitis pigmentosa
    American Journal of Human Genetics, 1994
    Co-Authors: C F Inglehearn, T J Keen, R Ratel
    Abstract:

    Retinitis pigmentosa is an inherited retinal degeneration characterized by night blindness and loss of peripheral vision, often leading to complete blindness. The autosomal dominant form (adRP) maps to at least six different loci, including the rhodopsin and peripherin/Rds genes and four loci identified only by linkage analysis on Chromosomes 7p, 7q, 8cen and 19q. The 7p locus was reported by this laboratory in a large English family, with a lod score of 16.5. Several new genetic markers have been tested in the family and this locus has now been refined to an interval of approximately 1 cM between markers D7S795 and D7S484 in the 7p13-15 region. In order to clone the gene for adRP, we have used microsatellites and STSs from the region to identify over 80 YACs, from four different libraries, which map to this interval. End clones from key YACs were isolated for the generation of additional STSs. Eleven microsatellite markers between D7S435 (distal) and D7S484 (proximal) have been ordered by a combination of both physical and genetic mapping. In this way we have now obtained a YAC contig spanning approximately 3 megabases of Chromosome 7p within which the adRP gene must lie. One gene (aquaporin) and onemore » Chromosome 7 brain EST have been placed on the contig but both map distal to the region of interest. Sixteen other ESTs and three further known 7p genes mapping in the region have been excluded. We are now attempting to build a cosmid contig in the defined interval and identify further expressed sequences from both YACs and cosmids to test as candidates for the adRP gene.« less

  • further refinement of the location for autosomal dominant retinitis pigmentosa on Chromosome 7p rp9
    American Journal of Human Genetics, 1994
    Co-Authors: C F Inglehearn, T J Keen, M Almaghtheh, A T Moore, M Jay, A C Bird, Cheryl Y Gregory, S S Bhattacharya
    Abstract:

    A form of autosomal dominant retinitis pigmentosa (adRP) mapping to Chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval estimated to be 1.6-4 cM. Genetic distances between the markers previously reported to be linked to this region and those described in the recent whole-genome poly-CA map were estimated from data in this and other families. These data should assist in the construction of a physical map of the region and will help to identify candidate genes for the 7p adRP locus.

  • a new locus for autosomal dominant retinitis pigmentosa on Chromosome 7p
    Nature Genetics, 1993
    Co-Authors: C F Inglehearn, S Carter, T J Keen, Janet C Lindsey, A M Stephenson, R Bashir, M Almaghtheh, A T Moore, M Jay, A C Bird
    Abstract:

    Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes-rhodopsin and peripherin-while a third locus has been implicated by linkage data. However, families have been reported in which all three known loci have been excluded. We report linkage of adRP in one such family to two microsatellite markers on Chromosome 7p. D7S435 has previously been localized to 7p13-15.1; D7S460, previously only localized to Chromosome 7, maps to within 2 cM of D7S435 with a lod score of 12.15. Two point linkage analysis between these markers and adRP gave lod scores of 5.65 (theta = 0) and 4.19 (theta = 0.046) for D7S460 and D7S435, respectively. Multipoint analysis gave a maximum lod score of 8.22. These data strongly suggest a new adRP locus on Chromosome 7p.

Kyproula Christodoulou - One of the best experts on this subject based on the ideXlab platform.

  • glycyl trna synthetase mutations in charcot marie tooth disease type 2d and distal spinal muscular atrophy type v
    American Journal of Human Genetics, 2003
    Co-Authors: Anthony Antonellis, Rachel E Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih Queen Leelin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou
    Abstract:

    Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and physical mapping efforts localized the responsible gene(s) to a well-defined region on human Chromosome 7p. Here, we report the identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V. This is the first example of an aminoacyl tRNA synthetase being implicated in a human genetic disease, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.

  • mapping of a distal form of spinal muscular atrophy with upper limb predominance to Chromosome 7p
    Human Molecular Genetics, 1995
    Co-Authors: Kyproula Christodoulou, Theodoros Kyriakides, Anna H Hristova, Domna Maria Georgiou, Ljuba Kalaydjieva, Borjana Yshpekova, Tatjana Ivanova, James L Weber, Lefkos T Middleton
    Abstract:

    An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on Chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5.99 at theta = 0.007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to Chromosome 7p.

A C Bird - One of the best experts on this subject based on the ideXlab platform.

  • autosomal dominant retinitis pigmentosa mapping to Chromosome 7p exhibits variable expression
    British Journal of Ophthalmology, 1995
    Co-Authors: R Y Kim, C F Inglehearn, A T Moore, M Jay, F W Fitzke, Geoffrey B Arden, S S Bhattacharya, A C Bird
    Abstract:

    The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to Chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near normal) electrophysiology and psychophysics; moderately affected with mild symptoms, abnormal electroretinograms, and equal loss of rod and cone function in affected areas of the retina; and severely affected with extinguished electroretinograms and barely detectable dark adapted static threshold sensitivities. The mutation in the gene on 7p causing adRP in this family causes regional retinal dysfunction with greatly variable expressivity ranging from normal to profoundly abnormal in a manner not explained by age.

  • further refinement of the location for autosomal dominant retinitis pigmentosa on Chromosome 7p rp9
    American Journal of Human Genetics, 1994
    Co-Authors: C F Inglehearn, T J Keen, M Almaghtheh, A T Moore, M Jay, A C Bird, Cheryl Y Gregory, S S Bhattacharya
    Abstract:

    A form of autosomal dominant retinitis pigmentosa (adRP) mapping to Chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval estimated to be 1.6-4 cM. Genetic distances between the markers previously reported to be linked to this region and those described in the recent whole-genome poly-CA map were estimated from data in this and other families. These data should assist in the construction of a physical map of the region and will help to identify candidate genes for the 7p adRP locus.

  • a new locus for autosomal dominant retinitis pigmentosa on Chromosome 7p
    Nature Genetics, 1993
    Co-Authors: C F Inglehearn, S Carter, T J Keen, Janet C Lindsey, A M Stephenson, R Bashir, M Almaghtheh, A T Moore, M Jay, A C Bird
    Abstract:

    Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes-rhodopsin and peripherin-while a third locus has been implicated by linkage data. However, families have been reported in which all three known loci have been excluded. We report linkage of adRP in one such family to two microsatellite markers on Chromosome 7p. D7S435 has previously been localized to 7p13-15.1; D7S460, previously only localized to Chromosome 7, maps to within 2 cM of D7S435 with a lod score of 12.15. Two point linkage analysis between these markers and adRP gave lod scores of 5.65 (theta = 0) and 4.19 (theta = 0.046) for D7S460 and D7S435, respectively. Multipoint analysis gave a maximum lod score of 8.22. These data strongly suggest a new adRP locus on Chromosome 7p.

R M Winter - One of the best experts on this subject based on the ideXlab platform.

  • evidence for locus heterogeneity in acrocephalosyndactyly a refined localization for the saethre chotzen syndrome locus on distal Chromosome 7p and exclusion of jackson weiss syndrome from craniosynostosis loci on 7p and 5q
    American Journal of Human Genetics, 1994
    Co-Authors: Lynne Van Herwerden, C S P Rose, Louise Brueton, Jean Weissenbach, Sue Malcolm, William Reardon, R M Winter
    Abstract:

    Craniosynostosis (premature fusion of the skull sutures) occurs as a clinically heterogeneous group of disorders, frequently involving digital abnormalities. We have previously provisionally assigned the gene for one such condition, Saethre-Chotzen syndrome (ACS III), to Chromosome 7p. Linkage analysis is now reported between ACS III and dinucleotide repeat loci on distal 7p. The maximum lod scores, Zmax, were 5.57 at a recombination fraction of .05, with D7S488, and 4.74 at a recombination fraction of .05, with D7S493. Only weak linkage, not reaching significance, was found with distal markers (D7S513 and afm281vc9) and a proximal marker (D7S516). Multipoint analysis shows that the disease locus lies between D7S513 and D7S516. Analysis of individual recombinants shows that the most likely position is between D7S493 and D7S516. Linkage data in regard of Jackson-Weiss syndrome demonstrate that this autosomal dominant form of acrocephalosyndactyly does not map to the ACS III region on 7p or to the acrocephalosyndactyly locus on 5q (Boston type). These findings underline the genetic heterogeneity among the different clinical conditions manifesting with acrocephalosyndactyly.

  • the mapping of a gene for craniosynostosis evidence for linkage of the saethre chotzen syndrome to distal Chromosome 7p
    Journal of Medical Genetics, 1992
    Co-Authors: Louise Brueton, K A Chotai, L Van Herwerden, R M Winter
    Abstract:

    Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of Chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis syndromes. Results of molecular genetic linkage studies provide evidence for localisation of the gene responsible to distal Chromosome 7p.

E. Portillo - One of the best experts on this subject based on the ideXlab platform.

  • chromosomal abnormalities in human glioblastomas gain in Chromosome 7p correlating with loss in Chromosome 10q
    Molecular Carcinogenesis, 2003
    Co-Authors: María Del Mar Inda, Xing Fan, Jorge Muñoz, Christine Perot, Didier Fauvet, Giselle Danglot, Ana Palacio, Pilar Madero, Idoya Zazpe, E. Portillo
    Abstract:

    Various genomic alterations have been detected in glioblastoma. Chromosome 7p, with the epidermal growth factor receptor locus, together with Chromosome 10q, with the phosphatase and tensin homologue deleted in Chromosome 10 and deleted in malignant brain tumors-1 loci, and Chromosome 9p, with the cyclin-dependent kinase inhibitor 2A locus, are among the most frequently damaged chromosomal regions in glioblastoma. In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in Chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different Chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly. Comparative genomic hybridization showed that the most frequent region of gain was Chromosome 7p, whereas the most frequent losses occurred on Chromosomes 10q and 13q. The only statistically significant association was found for 7p gain and 10q loss.

  • Chromosomal abnormalities in human glioblastomas: gain in Chromosome 7p correlating with loss in Chromosome 10q.
    Molecular carcinogenesis, 2002
    Co-Authors: María Del Mar Inda, Xing Fan, Jorge Muñoz, Christine Perot, Didier Fauvet, Giselle Danglot, Ana Palacio, Pilar Madero, Idoya Zazpe, E. Portillo
    Abstract:

    Various genomic alterations have been detected in glioblastoma. Chromosome 7p, with the epidermal growth factor receptor locus, together with Chromosome 10q, with the phosphatase and tensin homologue deleted in Chromosome 10 and deleted in malignant brain tumors-1 loci, and Chromosome 9p, with the cyclin-dependent kinase inhibitor 2A locus, are among the most frequently damaged chromosomal regions in glioblastoma. In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in Chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different Chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly. Comparative genomic hybridization showed that the most frequent region of gain was Chromosome 7p, whereas the most frequent losses occurred on Chromosomes 10q and 13q. The only statistically significant association was found for 7p gain and 10q loss. © 2002 Wiley-Liss, Inc.