Lamour V, Lévy N, Desmaze C, Baude V, Lécluse Y, Delattre O, Bernheim A, Thomas G, Aurias A, Lipinski M
Laboratoire de Biologie des Tumeurs Humaines, CNRS URA 1156, Institut Gustave Roussy, Villejuif, France.
Hum Mol Genet. 1993 May;2(5):535-40. doi: 10.1093/hmg/2.5.535.
The proximal portion of human chromosome 22q appears to carry genes implicated in the pathogenesis of various developmental disorders, including the cat eye syndrome (CES) and the DiGeorge syndrome (DGS). A cosmid library was prepared from a radiation hybrid selected for its content in chromosome 22 fragments. A large fraction of cosmids containing human DNA were found to derive from the juxtacentromeric region of chromosome 22, as shown by fluorescence in situ hybridization (FISH) performed using individual cosmids or cosmid pools as probes. Finer mapping was obtained for individual cosmids by hybridization to a somatic cell hybrid mapping panel which splits the long arm of the chromosome into 14 bins numbered 1 to 14 from the centromere to the telomere. Of the 10 cosmids mapped, eight belonged to group 1, the other two to group 14, in agreement with FISH data. Rare endonuclease sites and fragments conserved between species were searched in single cosmids, resulting in the selection of seven cosmid fragments which were used to screen a human fetal brain cDNA library. Three cDNAs were identified, encoded from two chromosome 22 genes which appeared to be novel, as determined from partial end sequence and comparison with the database entries. Fine localization of the 30.9 cDNA indicated that the corresponding gene was located in a segment of proximal 22q overlapping with the critical DGS region.
人类22号染色体长臂近端似乎携带着与多种发育障碍发病机制相关的基因，包括猫眼综合征（CES）和迪格奥尔格综合征（DGS）。从一个因含有22号染色体片段而被挑选出的辐射杂种细胞构建了一个黏粒文库。通过使用单个黏粒或黏粒池作为探针进行荧光原位杂交（FISH）显示，很大一部分含有人类DNA的黏粒来自22号染色体的近着丝粒区域。通过与一个将染色体长臂从着丝粒到端粒分成14个编号为1至14的区带的体细胞杂种定位板杂交，对单个黏粒进行了更精细的定位。在定位的10个黏粒中，8个属于第1组，另外两个属于第14组，这与FISH数据一致。在单个黏粒中搜索物种间保守的稀有内切酶位点和片段，从而挑选出7个黏粒片段，用于筛选人类胎儿脑cDNA文库。鉴定出了三个cDNA，它们由两个22号染色体基因编码，根据部分末端序列并与数据库条目比较，这两个基因似乎是新的。对30.9 cDNA的精细定位表明，相应基因位于22号染色体长臂近端与关键的DGS区域重叠的一段区域内。
