PubMed:10417280 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":44,"end":62},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":157,"end":178},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":180,"end":183},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":189,"end":206},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1157,"end":1160},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0007113"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0008300"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0008300"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0007113"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0008300"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":225,"end":250},"obj":"HP_0000708"},{"id":"T2","span":{"begin":917,"end":927},"obj":"HP_0009609"},{"id":"T3","span":{"begin":1036,"end":1048},"obj":"HP_0009609"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"BioLarkPubmedHPO","denotations":[{"id":"HP:0000708","span":{"begin":225,"end":250},"obj":"HP:0000708"},{"id":"HP:0000707","span":{"begin":225,"end":250},"obj":"HP:0000707"},{"id":"T1","span":{"begin":225,"end":250},"obj":"HP:0000708"},{"id":"T2","span":{"begin":225,"end":250},"obj":"HP:0000707"},{"id":"T1","span":{"begin":225,"end":250},"obj":"HP:0000708"},{"id":"T2","span":{"begin":225,"end":250},"obj":"HP:0000707"},{"id":"T1","span":{"begin":225,"end":250},"obj":"HP:0000708"},{"id":"T2","span":{"begin":225,"end":250},"obj":"HP:0000707"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":27,"end":62},"obj":"CompositeMention:D011218|D017204"},{"id":"T2","span":{"begin":157,"end":178},"obj":"SpecificDisease:D011218"},{"id":"T3","span":{"begin":180,"end":183},"obj":"SpecificDisease:D011218"},{"id":"T4","span":{"begin":189,"end":206},"obj":"SpecificDisease:D017204"},{"id":"T5","span":{"begin":208,"end":210},"obj":"SpecificDisease:D017204"},{"id":"T6","span":{"begin":225,"end":250},"obj":"DiseaseClass:D019954"},{"id":"T7","span":{"begin":1157,"end":1160},"obj":"Modifier:D011218"},{"id":"T8","span":{"begin":1161,"end":1163},"obj":"Modifier:D017204"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T4925","span":{"begin":27,"end":62},"obj":"CompositeMention"},{"id":"T4926","span":{"begin":157,"end":178},"obj":"SpecificDisease"},{"id":"T4927","span":{"begin":180,"end":183},"obj":"SpecificDisease"},{"id":"T4928","span":{"begin":189,"end":206},"obj":"SpecificDisease"},{"id":"T4929","span":{"begin":208,"end":210},"obj":"SpecificDisease"},{"id":"T4930","span":{"begin":225,"end":250},"obj":"DiseaseClass"},{"id":"T4931","span":{"begin":1157,"end":1160},"obj":"Modifier"},{"id":"T4932","span":{"begin":1161,"end":1163},"obj":"Modifier"}],"attributes":[{"id":"A4925","pred":"database_id","subj":"T4925","obj":"D011218|D017204"},{"id":"A4926","pred":"database_id","subj":"T4926","obj":"D011218"},{"id":"A4927","pred":"database_id","subj":"T4927","obj":"D011218"},{"id":"A4928","pred":"database_id","subj":"T4928","obj":"D017204"},{"id":"A4929","pred":"database_id","subj":"T4929","obj":"D017204"},{"id":"A4930","pred":"database_id","subj":"T4930","obj":"D019954"},{"id":"A4931","pred":"database_id","subj":"T4931","obj":"D011218"},{"id":"A4932","pred":"database_id","subj":"T4932","obj":"D017204"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T4925","span":{"begin":27,"end":62},"obj":"CompositeMention"},{"id":"T4926","span":{"begin":157,"end":178},"obj":"SpecificDisease"},{"id":"T4927","span":{"begin":180,"end":183},"obj":"SpecificDisease"},{"id":"T4928","span":{"begin":189,"end":206},"obj":"SpecificDisease"},{"id":"T4929","span":{"begin":208,"end":210},"obj":"SpecificDisease"},{"id":"T4930","span":{"begin":225,"end":250},"obj":"DiseaseClass"},{"id":"T4931","span":{"begin":1157,"end":1160},"obj":"Modifier"},{"id":"T4932","span":{"begin":1161,"end":1163},"obj":"Modifier"}],"attributes":[{"id":"A4925","pred":"database_id","subj":"T4925","obj":"D011218|D017204"},{"id":"A4926","pred":"database_id","subj":"T4926","obj":"D011218"},{"id":"A4927","pred":"database_id","subj":"T4927","obj":"D011218"},{"id":"A4928","pred":"database_id","subj":"T4928","obj":"D017204"},{"id":"A4929","pred":"database_id","subj":"T4929","obj":"D017204"},{"id":"A4930","pred":"database_id","subj":"T4930","obj":"D019954"},{"id":"A4931","pred":"database_id","subj":"T4931","obj":"D011218"},{"id":"A4932","pred":"database_id","subj":"T4932","obj":"D017204"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":27,"end":178},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":189,"end":206},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":157,"end":178},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":180,"end":183},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":189,"end":206},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":208,"end":210},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1157,"end":1160},"obj":"CompositeMention"},{"id":"T8","span":{"begin":1161,"end":1163},"obj":"CompositeMention"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":27,"end":62},"obj":"CompositeMention"},{"id":"T2","span":{"begin":157,"end":178},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":180,"end":183},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":189,"end":206},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":208,"end":210},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1157,"end":1163},"obj":"CompositeMention"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":27,"end":39},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":44,"end":62},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":157,"end":178},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":189,"end":206},"obj":"SpecificDisease"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":27,"end":62},"obj":"CompositeMention"},{"id":"T2","span":{"begin":157,"end":184},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":189,"end":211},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":1157,"end":1172},"obj":"CompositeMention"}],"text":"Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.\nPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively. At a de novo frequency of approximately.67-1/10,000 births, these deletions represent a common structural chromosome change in the human genome. To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster. Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions. Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints. The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues. One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event. We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion. Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process."}