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人类骨骼肌肌球蛋白重链基因簇的组织

Organization of the human skeletal myosin heavy chain gene cluster.

作者信息

Yoon S J, Seiler S H, Kucherlapati R, Leinwand L

机构信息

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461.

出版信息

Proc Natl Acad Sci U S A. 1992 Dec 15;89(24):12078-82. doi: 10.1073/pnas.89.24.12078.

Abstract

Myosin is an important structural and enzymatic component of skeletal muscle. Multiple myosin isoforms are encoded by a multigene family and are expressed in different developmental stages and fiber types. In humans and mice, skeletal myosin heavy chain (MYH) genes are clustered on a single chromosome (17p and 11, respectively). Since the structural organization of the gene cluster may affect its expression as well as shed light on MYH genetic alterations, a physical map of the human MYH gene cluster was constructed. Nine yeast artificial chromosomes containing MYH genes were isolated and used to construct a contiguous set (contig) of overlapping yeast artificial chromosomes. This contig encompasses a genetic marker mapped to 17p13.1. Six MYH genes were located within a 500-kilobase segment of human DNA. The order of the genes within this cluster does not correspond to the developmental pattern of expression of individual members.

摘要

肌球蛋白是骨骼肌重要的结构和酶组成成分。多个肌球蛋白亚型由一个多基因家族编码,并在不同发育阶段和纤维类型中表达。在人类和小鼠中,骨骼肌肌球蛋白重链(MYH)基因分别聚集在一条染色体上(分别为17号染色体短臂和11号染色体)。由于基因簇的结构组织可能影响其表达,并有助于了解MYH基因改变,因此构建了人类MYH基因簇的物理图谱。分离出9个含有MYH基因的酵母人工染色体,并用于构建一组连续的重叠酵母人工染色体(重叠群)。这个重叠群包含一个定位到17p13.1的遗传标记。6个MYH基因位于人类DNA的一个500千碱基片段内。该基因簇内基因的顺序与各个成员的发育表达模式不对应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/21cd/50701/032934fe8573/pnas01098-0441-a.jpg

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