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首页> 外文期刊>Current Genomics >Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes
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Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes

机译：基因组综合征的小鼠模型作为了解复杂性状基础的工具：以Smith-Magenis和Potocki-Lupski综合征为例

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摘要

Each human's genome is distinguished by extra and missing DNA that can be “benign” or powerfully impact everything from development to disease. In the case of genomic disorders DNA rearrangements, such as deletions or duplications, correlate with a clinical specific phenotype. The clinical presentations of genomic disorders were thought to result from altered gene copy number of physically linked dosage sensitive genes. Genomic disorders are frequent diseases (∼1 per 1,000 births). Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders, associated with a deletion and a duplication, of 3.7 Mb respectively, within chromosome 17 band p11.2. This region includes 23 genes. Both syndromes have complex and distinctive phenotypes including multiple congenital and neurobehavioral abnormalities. Human chromosome 17p11.2 is syntenic to the 32-34 cM region of murine chromosome 11. The number and order of the genes are highly conserved. In this review, we will exemplify how genomic disorders can be modeled in mice and the advantages that such models can give in the study of genomic disorders in particular and gene copy number variation (CNV) in general. The contributions of the SMS and PTLS animal models in several aspects ranging from more specific ones, as the definition of the clinical aspects of the human clinical spectrum, the identification of dosage sensitive genes related to the human syndromes, to the more general contributions as the definition of genetic locus impacting obesity and behavior and the elucidation of general mechanisms related to the pathogenesis of gene CNV are discussed.
机译：每个人的基因组都有额外的和缺失的DNA来区分，这些DNA可能是“良性的”，或者会强烈影响从发育到疾病的一切事物。在基因组疾病的情况下，DNA重排，例如缺失或重复，与临床特异性表型相关。人们认为基因组疾病的临床表现是由于物理连接的剂量敏感性基因的基因拷贝数改变所致。基因组疾病是常见疾病（每千名新生儿约1例）。 Smith-Magenis综合征（SMS）和Potocki-Lupski综合征（PTLS）是基因组疾病，分别与17号染色​​体p11.2内的3.7 Mb缺失和重复有关。该区域包括23个基因。两种综合征都有复杂而独特的表型，包括多种先天性和神经行为异常。人类染色体17p11.2与鼠染色体11的32-34 cM区域同义。这些基因的数量和顺序高度保守。在这篇综述中，我们将举例说明如何在小鼠中模拟基因组疾病，以及这种模型在研究基因组疾病和基因拷贝数变异（CNV）方面​​的优势。 SMS和PTLS动物模型在几个方面的贡献，从更具体的方面（如人类临床谱的临床方面的定义，与人类综合征相关的剂量敏感基因的鉴定）到更广泛的贡献（如讨论了影响肥胖和行为的遗传基因座的定义，以及阐明与基因CNV发病机制有关的一般机制。

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