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两个编码心室/慢骨骼肌亚型和心房/胎儿肌肉亚型的肌球蛋白碱性轻链基因(MYL3、MYL4)的染色体定位。

Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4).

作者信息

Cohen-Haguenauer O, Barton P J, Van Cong N, Cohen A, Masset M, Buckingham M, Frézal J

机构信息

Unité de Recherches de Génétique Médicale INSERM U.12, Clinique Maurice Lamy, Hôpital des Enfants-Malades, Paris, France.

出版信息

Hum Genet. 1989 Feb;81(3):278-82. doi: 10.1007/BF00279004.

Abstract

In all eukaryotes, myosin plays a major role in the maintenance of cell shape and in cellular movement; in association with actin and other contractile proteins it is also a major structural component of the muscle sarcomere. Several isoforms of myosin alkali light chain have been identified, associated with different muscle types. We have recently localized the gene encoding the fast skeletal muscle alkali light-chain isoforms MLC1F and MLC3F (HGM symbol, MYL1) to human chromosome 2q32.1-qter (Cohen-Haguenauer 1988). We present here the chromosomal assignment of two loci encoding the ventricular muscle isoform MLC1V (equivalent to the slow skeletal muscle isoform MLC1Sb) and the atrial muscle isoform MLC1A (equivalent to the fetal isoform MLC1emb) using a panel of 25 independent man-rodent somatic cell hybrids. The MLC1V gene (HGM symbol, MYL3) was mapped to human chromosome 3 using a human full-length cDNA probe that hybridizes to a single major human TaqI2.8-kb fragment. The MLC1A probe (HGM symbol, MYL4) was a 360-bp mouse cDNA fragment that gave a distinct signal with human DNA using low stringency conditions of hybridization and washings and after presaturation of the Southern blots with rodent DNA. A single PstI 7.8-kb fragment gives an intense signal, and its presence correlates with the presence of chromosome 17 among the hybrids. These data are in keeping with the localizations of the MLC1V gene to mouse chromosome 9, and of the MLC1A gene to mouse chromosome 11, which share some markers in common with human chromosomes 3 and 17 respectively.

摘要

在所有真核生物中,肌球蛋白在维持细胞形态和细胞运动中起主要作用;与肌动蛋白和其他收缩蛋白相关联,它也是肌小节的主要结构成分。已鉴定出几种肌球蛋白碱性轻链同工型,它们与不同的肌肉类型相关。我们最近将编码快肌骨骼肌碱性轻链同工型MLC1F和MLC3F(人类基因座命名符号,MYL1)的基因定位到人类染色体2q32.1 - qter (科恩 - 哈格瑙尔,1988年)。我们在此展示了使用一组25个独立的人 - 啮齿动物体细胞杂种对编码心室肌同工型MLC1V(等同于慢肌骨骼肌同工型MLC1Sb)和心房肌同工型MLC1A(等同于胎儿同工型MLC1emb)的两个基因座进行的染色体定位。使用与人的一个主要TaqI 2.8 - kb片段杂交的人全长cDNA探针,将MLC1V基因(人类基因座命名符号,MYL3)定位到人类染色体3上。MLC1A探针(人类基因座命名符号,MYL4)是一个360 - bp的小鼠cDNA片段,在低严谨度的杂交和洗涤条件下以及在用啮齿动物DNA对Southern印迹进行预饱和后,它与人类DNA产生明显信号。一个单一的PstI 7.8 - kb片段给出强烈信号,并且其存在与杂种中染色体17的存在相关。这些数据与MLC1V基因在小鼠染色体9上以及MLC1A基因在小鼠染色体11上的定位一致,它们分别与人染色体3和17共享一些共同的标记。

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