Literature DB >> 9267803

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.

D M Church1, J Yang, M Bocian, R Shiang, J J Wasmuth.   

Abstract

A high-resolution physical and transcription map has been generated of a 3.5-Mb region of 5p15.2 that is associated with the Cri du chat (CDC) syndrome. Utilizing a variety of resources including a natural deletion panel, a chromosome specific radiation hybrid panel, and YAC, PAC, and BAC genomic clones we have ordered > 60 STSs within this region. Approximately 45% of these STSs were obtained from publicly available whole genome maps, thus allowing for integration of this map with currently available resources. Thirteen of these markers were ESTs. In addition, > 70 exon trapped products have been mapped on the natural deletion panel and bacterial clone resource. The combination of these resources has allowed for the identification of 17 transcripts within this region, all of which represent candidate genes for CDC. Further characterization of the genomic contig also revealed that this region of 5p15 contains a large number of repetitive elements.

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Year:  1997        PMID: 9267803     DOI: 10.1101/gr.7.8.787

Source DB:  PubMed          Journal:  Genome Res        ISSN: 1088-9051            Impact factor:   9.043


  12 in total

1.  Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Authors:  E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

2.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

3.  High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.

Authors:  Xiaoxiao Zhang; Antoine Snijders; Richard Segraves; Xiuqing Zhang; Anita Niebuhr; Donna Albertson; Huanming Yang; Joe Gray; Erik Niebuhr; Lars Bolund; Dan Pinkel
Journal:  Am J Hum Genet       Date:  2005-01-04       Impact factor: 11.025

4.  Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.

Authors:  Tatsuro Kondoh; Osamu Shimokawa; Naoki Harada; Tomoki Doi; Chyuns Yun; Yuji Gohda; Fumiko Kinoshita; Tadashi Matsumoto; Hiroyuki Moriuchi
Journal:  J Hum Genet       Date:  2004-12-16       Impact factor: 3.172

5.  The human LEF-1 gene contains a promoter preferentially active in lymphocytes and encodes multiple isoforms derived from alternative splicing.

Authors:  K Hovanes; T W Li; M L Waterman
Journal:  Nucleic Acids Res       Date:  2000-05-01       Impact factor: 16.971

Review 6.  5p deletions: Current knowledge and future directions.

Authors:  Joanne M Nguyen; Krista J Qualmann; Rebecca Okashah; AmySue Reilly; Mikhail F Alexeyev; Dennis J Campbell
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-08-03       Impact factor: 3.908

7.  Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Authors:  P C Mainardi; C Perfumo; A Calì; G Coucourde; G Pastore; S Cavani; F Zara; J Overhauser; M Pierluigi; F D Bricarelli
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

8.  Identification of novel NPRAP/δ-catenin-interacting proteins and the direct association of NPRAP with dynamin 2.

Authors:  Carolina Koutras; Georges Lévesque
Journal:  PLoS One       Date:  2011-10-14       Impact factor: 3.240

Review 9.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123

10.  Disorders caused by chromosome abnormalities.

Authors:  Aaron Theisen; Lisa G Shaffer
Journal:  Appl Clin Genet       Date:  2010-12-10
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