دورية أكاديمية
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
| العنوان: | The 22q11 low copy repeats are characterized by unprecedented size and structural variability. |
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| المؤلفون: | Demaerel W; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium., Mostovoy Y; Cardiovascular Research Institute, UCSF School of Medicine, San Francisco, California 94158, USA., Yilmaz F; Department of Integrative Biology, University of Colorado Denver, Denver, Colorado 80204, USA.; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA., Vervoort L; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium., Pastor S; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA., Hestand MS; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45221, USA., Swillen A; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium., Vergaelen E; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium., Geiger EA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA., Coughlin CR; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA., Chow SK; Cardiovascular Research Institute, UCSF School of Medicine, San Francisco, California 94158, USA., McDonald-McGinn D; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA., Morrow B; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA., Kwok PY; Cardiovascular Research Institute, UCSF School of Medicine, San Francisco, California 94158, USA., Xiao M; School of Biomedical Engineering, Drexel University, Philadelphia, Pennsylvania 19104, USA., Emanuel BS; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA., Shaikh TH; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado 80045, USA., Vermeesch JR; Departement of Human Genetics, KU Leuven, Leuven, 3000 Belgium. |
| المصدر: | Genome research [Genome Res] 2019 Sep; Vol. 29 (9), pp. 1389-1401. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Cold Spring Harbor, N.Y. : Cold Spring Harbor Laboratory Press, c1995- |
| مواضيع طبية MeSH: | Repetitive Sequences, Nucleic Acid*, 22q11 Deletion Syndrome/*genetics , Chromosome Mapping/*methods , Chromosomes, Human, Pair 22/*genetics, Animals ; Cell Line ; Chromosomal Instability ; Evolution, Molecular ; Humans ; In Situ Hybridization, Fluorescence ; Primates/genetics |
| مستخلص: | Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate nonallelic homologous recombination (NAHR) leading to the 22q11 deletion syndrome (22q11DS). However, LCR22s are among the most complex regions in the genome, and their structure remains unresolved. The difficulty in generating accurate maps of LCR22s has also hindered localization of the deletion end points in 22q11DS patients. Using fiber FISH and Bionano optical mapping, we assembled LCR22 alleles in 187 cell lines. Our analysis uncovered an unprecedented level of variation in LCR22s, including LCR22A alleles ranging in size from 250 to 2000 kb. Further, the incidence of various LCR22 alleles varied within different populations. Additionally, the analysis of LCR22s in 22q11DS patients and their parents enabled further refinement of the rearrangement site within LCR22A and -D, which flank the 22q11 deletion. The NAHR site was localized to a 160-kb paralog shared between the LCR22A and -D in seven 22q11DS patients. Thus, we present the most comprehensive map of LCR22 variation to date. This will greatly facilitate the investigation of the role of LCR variation as a driver of 22q11 rearrangements and the phenotypic variability among 22q11DS patients. (© 2019 Demaerel et al.; Published by Cold Spring Harbor Laboratory Press.) |
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| معلومات مُعتمدة: | U01 MH101720 United States MH NIMH NIH HHS; R01 HL084410 United States HL NHLBI NIH HHS; R01 GM120772 United States GM NIGMS NIH HHS; R01 GM125757 United States GM NIGMS NIH HHS; U01 MH101723 United States MH NIMH NIH HHS; P01 HD070454 United States HD NICHD NIH HHS; U54 HD090260 United States HD NICHD NIH HHS |
| تواريخ الأحداث: | Date Created: 20190905 Date Completed: 20200224 Latest Revision: 20221115 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC6724673 |
| DOI: | 10.1101/gr.248682.119 |
| PMID: | 31481461 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1549-5469 |
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| DOI: | 10.1101/gr.248682.119 |