PHYSICAL LOCATION OF THE HUMAN-IMMUNOGLOBULIN LAMBDA-LIKE GENES, 14.1, 16.1, AND 16.2
PHYSICAL LOCATION OF THE HUMAN-IMMUNOGLOBULIN LAMBDA-LIKE GENES, 14.1, 16.1, AND 16.2
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DOI：
10.1007/bf00184519
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发表时间：
1993-09-01
期刊：
影响因子：
3.2
通讯作者：
BLOMBERG, BB
中科院分区：
文献类型：
--
作者：
BAUER, TR;MCDERMID, HE;BLOMBERG, BB
人免疫球蛋白lambda-like(IGLL)基因与人免疫球蛋白lambda(IGL)轻链基因同源，仅在前B细胞中表达，参与B细胞的发育。在人类中发现了三个IGLL基因，14.1、16.1和16.2，而在小鼠中发现了一个lambda5(Ig11)基因。为了准确定位人类IGL基因之间的相互关系和与人类IGL基因座的位置，在22q11.1-2，使用了体细胞杂交板和脉冲场凝胶电泳(PFGE)。用lambda类基因特异性DNA探针与体细胞杂交发现，这些基因位于22q12的断点簇区(BCR)和尤文肉瘤断裂点之间的22q11.2上，而基因161位于基因14.1和16.2的远端。PFGE发现14.1基因在16.2附近，至少有30kb的碱基。包含14.1和16.2基因的210kb的Not I片段与包含BCR基因座的400kb的Not I片段相邻，后者位于IGL-C(IGL恒定区)基因的远端。我们已经确定IGL基因14.1和16.2分别位于IGL基因座IGL-C7中3‘端最大的IGL-C基因的末端，分别约为670kb和690~830kb。因此，我们展示了IGL和IGLL基因的第一个物理连锁，14.1和16.2。我们讨论了甲基化模式和CpG岛与表达的相关性，以及IGLL基因复制的进化意义。与GenBank命名法一致，这些人类IGLL基因将被称为IGLL1(14.1)、IGLL2(16.2)和IGLL3(16.1)，这反映了它们在22号染色体上的位置，正如本报告所确定的那样。
The human immunoglobulin lambda-like (IGLL) genes, which are homologous to the human immunoglobulin lambda (IGL) light chain genes, are expressed only in pre-B cells and are involved in B cell development. Three IGLL genes, 14.1, 16.1, and 16.2 are present in humans as opposed to one, lambda5 (Igll), found in the mouse. To precisely map the location of the human IGLL genes in relation to each other and to the human IGL gene locus, at 22q11.1-2, a somatic cell hybrid panel and pulsed field gel electrophoresis (PFGE) were used. Hybridization with a lambda-like gene-specific DNA probe to somatic cell hybrids revealed that these genes reside on 22q11.2 between the breakpoint cluster region (BCR) and the Ewing sarcoma breakpoint at 22q12 and that gene 161 was located distal to genes 14.1 and 16.2. Gene 14.1 was found by PFGE to be proximal to 16.2 by at least 30 kilobases (kb). A 210 kb Not I fragment containing genes 14.1 and 16.2 is adjacent to a 400 kb Not I fragment containing the BCR locus, which is just distal to the IGL-C (IGL constant region) genes. We have determined that the IGLL genes 14.1 and 16.2 are approximately 670 kb and 690 to 830 kb distal, respectively, to the 3'-most IGL-C gene in the IGL gene locus, IGL-C7. We thus show the first physical linkage of the IGL and the IGLL genes, 14.1 and 16.2. We discuss the relevance of methylation patterns and CpG islands to expression, and the evolutionary significance of the IGLL gene duplications. Consistent with the GenBank nomenclature, these human IGLL genes will be referred to as IGLL1 (14.1), IGLL2 (16.2), and IGLL3 (16.1), reflecting their position on chromosome 22, as established by this report.