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  • 1. Kimberling, W. J.
    et al.
    Möller, Claes
    Örebro University, School of Health and Medical Sciences.
    Davenport, S.
    Priluck, I. A.
    Beighton, P. H.
    Greenberg, J.
    Reardon, W.
    Weston, M. D.
    Kenyon, J. B.
    Grunkemeyer, J. A.
    Pieke Dahl, S.
    Overbeck, L. D.
    Blackwood, D. J.
    Brower, A. M.
    Hoover, D. M.
    Rowland, P.
    Smith, R. J. H.
    Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 111992In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 14, no 4, p. 988-994Article in journal (Refereed)
    Abstract [en]

    Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

  • 2. Kimberling, William J.
    et al.
    Weston, Michael D.
    Möller, Claes
    Örebro University, School of Health and Medical Sciences.
    Davenport, Sandra L.
    Shugart, Yin Y.
    Priluck, Ira A.
    Martini, Alessandro
    Milani, Massimo
    Smith, Richard J.
    Localization of Usher syndrome type II to chromosome 1q1990In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 7, no 2, p. 245-249Article in journal (Refereed)
    Abstract [en]

    Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.

  • 3.
    Rahman, Aminur
    et al.
    Systems Biology Research Center, School of Bioscience, University of Skövde, Skövde, Sweden; School of Science and Technology, Örebro University, Örebro, Sweden.
    Nahar, Noor
    Systems Biology Research Center, School of Bioscience, University of Skövde, Skövde, Sweden.
    Nawani, Neelu N.
    Dr. D. Y. Patil Biotechnology and Bioinformatics Institute, Dr. D. Y. Patil Vidyapeeth, Pune, India.
    Jass, Jana
    Örebro University, School of Science and Technology.
    Ghosh, Sibdas
    School of Arts and Science, Iona College, New Rochelle NY, USA.
    Olsson, Björn
    Systems Biology Research Center, School of Bioscience, University of Skövde, Skövde, Sweden.
    Mandal, Abul
    Systems Biology Research Center, School of Bioscience, University of Skövde, Skövde, Sweden.
    Comparative genome analysis of Lysinibacillus B1-CDA, a bacterium that accumulates arsenics2015In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 106, no 6, p. 384-392Article in journal (Refereed)
    Abstract [en]

    Previously, we reported an arsenic resistant bacterium Lysinibacillus sphaericus B1-CDA, isolated from an arsenic contaminated lands. Here, we have investigated its genetic composition and evolutionary history by using massively parallel sequencing and comparative analysis with other known Lysinibacillus genomes. Assembly of the sequencing reads revealed a genome of similar to 4.5 Mb in size encompassing similar to 80% of the chromosomal DNA. We found that the set of ordered contigs contains abundant regions of similarity with other Lysinibacillus genomes and clearly identifiable genome rearrangements. Furthermore, all genes of B1-CDA that were predicted be involved in its resistance to arsenic and/or other heavy metals were annotated. The presence of arsenic responsive genes was verified by PCR in vitro conditions. The findings of this study highlight the significance of this bacterium in removing arsenics and other toxic metals from the contaminated sources. The genetic mechanisms of the isolate could be used to cope with arsenic toxicity.

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