کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2041484 1073163 2014 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain
ترجمه فارسی عنوان
تک سلولی، توالی ژنوم گسترده ای شناسایی تغییرات نسخه کلاسیک در مغز انسان
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک علوم کشاورزی و بیولوژیک (عمومی)
چکیده انگلیسی


• Single-neuron, whole-genome sequencing allows copy-number variant detection
• Most human single neurons are euploid at the chromosome level
• Large (>1 Mb) somatic copy-number variants occur approximately once per genome
• Some somatic copy-number variants are clonally inherited and some cause disease

SummaryDe novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown. Single-cell whole-genome sequencing (WGS) in >200 single cells, including >160 neurons from three normal and two pathological human brains, sensitively identified germline trisomy of chromosome 18 but found most (≥95%) neurons in normal brain tissue to be euploid. Analysis of a patient with hemimegalencephaly (HMG) due to a somatic CNV of chromosome 1q found unexpected tetrasomy 1q in ∼20% of neurons, suggesting that CNVs in a minority of cells can cause widespread brain dysfunction. Single-cell analysis identified large (>1 Mb) clonal CNVs in lymphoblasts and in single neurons from normal human brain tissue, suggesting that some CNVs occur during neurogenesis. Many neurons contained one or more large candidate private CNVs, including one at chromosome 15q13.2-13.3, a site of duplication in neuropsychiatric conditions. Large private and clonal somatic CNVs occur in normal and diseased human brains.

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ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 8, Issue 5, 11 September 2014, Pages 1280–1289
نویسندگان
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