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Douglas R. Higgs - One of the best experts on this subject based on the ideXlab platform.
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de novo truncation of Chromosome 16p and healing with ttaggg n in the alpha thalassemia mental retardation syndrome atr 16
American Journal of Human Genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
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De novo truncation of Chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
American journal of human genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
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Characterization of the telomeric region of human Chromosome 16p
Chromosomes Today, 1993Co-Authors: Douglas R. Higgs, Wilkie Aom., Paresh Vyas, M A Vickers, V J Buckle, P C HarrisAbstract:The terminal regions of Chromosomes have specialised molecular and cytological properties, which are reflected in their DNA sequence organisation. Telomeric DNA, the conserved sequence at the extreme ends of Chromosomes, comprises in mammals a variable length (2-20 kb in humans; 15-150 kb in mouse) of the simple sequence (TTAGGG)n orientated 5’->3’ toward the Chromosome end. It is likely that this repeat motif, together with associated protein components can explain many of the properties of human telomeres; for example, replication of the terminal DNA, protection against exonucleolytic degradation, and the prevention of Chromosome fusion (reviewed in Blackburn, 1991).
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An unusually large (CA)n repeat in the region of divergence between subtelomeric alleles of human Chromosome 16p.
Genomics, 1992Co-Authors: Andrew O.m. Wilkie, Douglas R. HiggsAbstract:Previous work has demonstrated discontinuous length variation at the tip of the short arm of human Chromosome 16 (16pter) due to polymorphism of the subtelomeric region. We have now analyzed the zone where the two most common subtelomeric alleles (A and B) diverge. This lies 145 kb distal to the alpha-globin genes and comprises a complex segment of approximately 4 kb where there is partial loss of homology between the alleles, preceding the final point of divergence. Most notably, there is an imperfect (CA)n repeat that differs in length with different 16pter alleles and is exceptionally large (n = 250-350) in the case of the A allele and homologous sequences on Xqter and Yqter. Both the (CA)n expansion and the genetic exchange between Chromosomes 16, X, and Y seem to have occurred since the divergence of man from other great apes. The occurrence of long (CA)n tracts may be related to the biology of subtelomeric regions.
J. Lamb - One of the best experts on this subject based on the ideXlab platform.
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de novo truncation of Chromosome 16p and healing with ttaggg n in the alpha thalassemia mental retardation syndrome atr 16
American Journal of Human Genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
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De novo truncation of Chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
American journal of human genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
Peter C. Harris - One of the best experts on this subject based on the ideXlab platform.
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Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).
American journal of human genetics, 1994Co-Authors: A Snarey, Peter C. Harris, S E Pound, S Thomas, A F Wright, Gregory G. Germino, Stefan Somlo, Michael C. Schneider, Nikki Barton, S.t. ReedersAbstract:The gene for autosomal dominant polycystic kidney disease (PKD1) is located on Chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6 prox). This region is 750 kb long and has been cloned. The authors have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scottish families that had previously shown association with D16S94, a marker proximal to the PKD1 region. They report significant association between two CA repeat markers and the disease but have not found evidence for a single founder haplotype in these families, indicating the presence of several mutations in this population. Their results favor a location of the PKD1 gene in the proximal part of the candidate region. 25 refs., 1 fig., 4 tabs.
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de novo truncation of Chromosome 16p and healing with ttaggg n in the alpha thalassemia mental retardation syndrome atr 16
American Journal of Human Genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
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De novo truncation of Chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
American journal of human genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
J. G. Dauwerse - One of the best experts on this subject based on the ideXlab platform.
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high susceptibility of Chromosome 16 to radiation induced Chromosome rearrangements in human lymphocytes under in vivo and in vitro exposure
Cytogenetic and Genome Research, 2005Co-Authors: Marjori Leiva Camparoto, J. G. Dauwerse, S Takahashihyodo, A T Natarajan, Elza Tiemi SakamotohojoAbstract:The aim of the present study was to investigate whether Chromosome 16p presents breakpoint regions susceptible to radiation-induced rearrangements. The frequencies of translocations were determined by
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de novo truncation of Chromosome 16p and healing with ttaggg n in the alpha thalassemia mental retardation syndrome atr 16
American Journal of Human Genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
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De novo truncation of Chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
American journal of human genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
William G. Wood - One of the best experts on this subject based on the ideXlab platform.
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de novo truncation of Chromosome 16p and healing with ttaggg n in the alpha thalassemia mental retardation syndrome atr 16
American Journal of Human Genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.
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De novo truncation of Chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
American journal of human genetics, 1993Co-Authors: J. Lamb, Peter C. Harris, Andrew O.m. Wilkie, William G. Wood, J. G. Dauwerse, Douglas R. HiggsAbstract:We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of Chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of Chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of Chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.