Sugawara Ayako, Goto Kazuo, Sotomaru Yusuke, Sofuni Toshio, Ito Toshio
Department of Genetics, International Council for Laboratory Animal Science Monitoring Center, Central Institute for Experimental Animals, Miyamae-ku, Kawasaki, Kanagawa, 216 0001 Japan.
Comp Med. 2006 Feb;56(1):31-4.
We performed chromosomal analysis on 540 mouse embryonic stem (ES) cell lines obtained during 2001 to 2004 from 20 institutions in Japan. Overall, 66.5% of the ES cell lines showed normal chromosomal numbers, but 15.9%, 9.1%, and 2.8% showed modal chromosomal numbers of 41, 42, and 39, respectively. When we karyotyped 88 ES cell lines selected arbitrarily from the 540 lines, 53 (60.2%) showed normal diploid karyotypes; the sex chromosome constitution of 52 lines was XY, with the remaining 1 being XX. Among 35 ES cell lines showing abnormal karyotypes, trisomy of chromosome 8 (41, XY, +8) was dominant (51.4%), 14.3% had trisomy 8 with loss of one sex chromosome (40, XO, +8), and 11.4% had trisomy 8 together with trisomy 11 (42, XY, +8, +11). Karyotypic abnormalities including trisomy 8 and trisomy 11 occurred in 88.6% and 17.1% of ES cell lines, respectively. The XO sex chromosome constitution was observed in 25.7% of all abnormal ES cell lines. Of the 88 selected ES cell lines, 60 lines were established from strain 129 animals, 17 from F1 progeny of C57BL/6J x CBA (called TT2 in this study), and 11 from C57BL/6J mice. Normal diploid karyotypes were observed in 58.3% of lines derived from 129, 58.8% of those from TT2, and 72.7% of C57BL/6J. The relatively high incidence of abnormalities in chromosomal number and karyotype in ES cell lines used in Japan suggests the importance of chromosomal analysis of ES cells for successful establishment of new animal models through germline transmission.
我们对2001年至2004年期间从日本20家机构获得的540个小鼠胚胎干细胞（ES）系进行了染色体分析。总体而言，66.5%的ES细胞系染色体数目正常，但分别有15.9%、9.1%和2.8%的细胞系染色体众数为41、42和39。当我们对从这540个细胞系中任意挑选的88个ES细胞系进行核型分析时，53个（60.2%）显示出正常的二倍体核型；52个细胞系的性染色体组成为XY，其余1个为XX。在35个显示异常核型的ES细胞系中，8号染色体三体（41, XY, +8）最为常见（51.4%），14.3%的细胞系为8号染色体三体且丢失一条性染色体（40, XO, +8），11.4%的细胞系为8号染色体三体同时伴有11号染色体三体（42, XY, +8, +11）。包括8号染色体三体和11号染色体三体在内的核型异常分别出现在88.6%和17.1%的ES细胞系中。XO性染色体组成在所有异常ES细胞系中占25.7%。在挑选的88个ES细胞系中，60个来自129品系动物，17个来自C57BL/6J×CBA的F1代（本研究中称为TT2），11个来自C57BL/6J小鼠。来自129品系的细胞系中有58.3%、来自TT2的细胞系中有58.8%以及来自C57BL/6J的细胞系中有72.7%观察到正常的二倍体核型。日本使用的ES细胞系中染色体数目和核型异常的发生率相对较高，这表明通过种系传递成功建立新动物模型时，对ES细胞进行染色体分析非常重要。
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