Literature DB >> 7720401

Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.

J F Hess1, J T Casselman, P G FitzGerald.   

Abstract

We have used the polymerase chain reaction (PCR) to amplify CP 115 and CP 47 encoding sequences from human lens cDNA samples. DNA sequence and northern blot analysis were used to confirm human origin. From the determined cDNA sequences, human-specific oligonucleotides were synthesized and assessed for the ability to amplify human genomic DNA. After empirically selecting a primer pair for each gene able to amplify human genomic DNA, and optimizing PCR conditions for human specificity, we used the PCR to screen a panel of mouse/human somatic cell hybrid DNA samples. Amplification of CP 115 or CP 47 sequences in each of the somatic cell hybrid samples was correlated with the presence/absence of human genomic DNA sequences encoding the respective gene sequences. From our results, we conclude that the gene for human CP 115 resides on chromosome 20 and the gene for human CP 47 on chromosome 3. Further mapping using somatic cell lines carrying derivatives of human chromosome 3 localize the gene for CP 47 to 3q21-25. We propose LIFL-H (Lens Intermediate Filament Like-Heavy) for CP 115 and LIFL-L (Lens Intermediate Filament Like-Light) for CP 47 as the gene symbols for these loci.

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Year:  1995        PMID: 7720401     DOI: 10.3109/02713689508999909

Source DB:  PubMed          Journal:  Curr Eye Res        ISSN: 0271-3683            Impact factor:   2.424


  4 in total

Review 1.  Functions of the intermediate filament cytoskeleton in the eye lens.

Authors:  Shuhua Song; Andrew Landsbury; Ralf Dahm; Yizhi Liu; Qingjiong Zhang; Roy A Quinlan
Journal:  J Clin Invest       Date:  2009-07-01       Impact factor: 14.808

2.  Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.

Authors:  P M Jakobs; J F Hess; P G FitzGerald; P Kramer; R G Weleber; M Litt
Journal:  Am J Hum Genet       Date:  2000-03-16       Impact factor: 11.025

3.  A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.

Authors:  Y P Conley; D Erturk; A Keverline; T S Mah; A Keravala; L R Barnes; A Bruchis; J F Hess; P G FitzGerald; D E Weeks; R E Ferrell; M B Gorin
Journal:  Am J Hum Genet       Date:  2000-03-22       Impact factor: 11.025

4.  A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Authors:  Xu Ma; Fei-Feng Li; Shu-Zhen Wang; Chang Gao; Meng Zhang; Si-Quan Zhu
Journal:  Mol Vis       Date:  2008-10-24       Impact factor: 2.367

  4 in total

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