Matsuoka R, Yoshida M C, Furutani Y, Imamura S, Kanda N, Yanagisawa M, Masaki T, Takao A
Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo.
Am J Med Genet. 1993 Apr 1;46(1):61-7. doi: 10.1002/ajmg.1320460110.
The partial nucleotide sequence encoding the rod portion of the entire amino acid sequence of human smooth muscle myosin heavy chain (MHC) which corresponds to MYH11, according to Human Gene Mapping nomenclature, has been determined by cloning a complementary DNA (cDNA) and sequencing the cDNA (UMYHSM). Northern blot analysis with the UMYHSM fragment (4.3 Kb) showed that the smooth muscle MHC of the human umbilical artery is expressed in the human umbilical artery, bladder, esophagus and trachea. Southern blot analysis of human genomic DNA from human-mouse or human-Chinese hamster somatic cell hybrids demonstrated that the human smooth muscle MHC was mapped to human chromosome 16. Regional mapping of UMYHSM was performed using human cell lines with partial deletion and trisomy of chromosome 16. As a result, the human smooth muscle MHC gene segregated with 16p11-q12. In situ hybridization of biotin-labeled human smooth muscle MHC probe (UMYHSM fragment) to normal human metaphase chromosome independently showed that the human smooth muscle MHC gene (MYH11) is assigned to chromosome region 16q12. Analysis of early metaphase chromosomes showed that hybridization signals were in 16q12.1. In the human, although skeletal, cardiac, smooth muscle, and nonmuscle MHC genes are mapped to chromosomes 17, 14, 16, and 22, respectively, structural similarities of these MHC genes strongly suggest the common origin of these genes.
根据人类基因图谱命名法，通过克隆互补DNA（cDNA）并对其进行测序（UMYHSM），已确定了编码人类平滑肌肌球蛋白重链（MHC）完整氨基酸序列杆状部分的部分核苷酸序列，该序列对应于MYH11。用UMYHSM片段（4.3 Kb）进行的Northern印迹分析表明，人脐动脉的平滑肌MHC在人脐动脉、膀胱、食管和气管中表达。对人-小鼠或人-中国仓鼠体细胞杂种的人类基因组DNA进行Southern印迹分析表明，人类平滑肌MHC定位于人类16号染色体。使用具有16号染色体部分缺失和三体性的人类细胞系对UMYHSM进行区域定位。结果，人类平滑肌MHC基因与16p11-q12共分离。用生物素标记的人类平滑肌MHC探针（UMYHSM片段）对正常人中期染色体进行原位杂交独立显示，人类平滑肌MHC基因（MYH11）定位于16号染色体区域16q12。对早中期染色体的分析表明，杂交信号位于16q12.1。在人类中，尽管骨骼肌、心肌、平滑肌和非肌肉MHC基因分别定位于17号、14号、16号和22号染色体，但这些MHC基因的结构相似性强烈表明这些基因有共同的起源。
