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一个无序列缺陷的人免疫球蛋白κ假基因可能是臂间倒位的产物。

A human immunoglobulin kappa orphon without sequence defects may be the product of a pericentric inversion.

作者信息

Huber C, Thiebe R, Hameister H, Smola H, Lötscher E, Zachau H G

机构信息

Institut für Physiologische Chemie, Physikalische Biochemie und Zellbiologie der Universität München, FRG.

出版信息

Nucleic Acids Res. 1990 Jun 25;18(12):3475-8. doi: 10.1093/nar/18.12.3475.

Abstract

The VK gene segments that have been transposed from the kappa locus on the short arm of chromosome 2 at 2p11-12 to other chromosomal sites are called orphons. The 18 VK orphons sequenced up to now carry defects and are to be considered pseudogenes. We now describe the VKI gene segment V108 whose sequence is without any defects and which was localized to the long arm of chromosome 2 at 2q12-14 by in situ hybridization. The V108 region may have been transposed from the short to the long arm of chromosome 2 by a pericentric inversion. Possible reasons for the conservation of its sequence are discussed. In spite of its bona fide sequence V108 is considered to be an unlikely candidate for a VK-JK rearrangement and subsequent functional expression.

摘要

已从2号染色体短臂2p11 - 12处的κ轻链基因座转座至其他染色体位点的VK基因片段被称为孤独基因。截至目前测序的18个VK孤独基因存在缺陷,应被视为假基因。我们现在描述VKI基因片段V108,其序列无任何缺陷,并且通过原位杂交定位到2号染色体长臂2q12 - 14处。V108区域可能通过臂间倒位从2号染色体的短臂转座至长臂。文中讨论了其序列得以保守的可能原因。尽管V108序列真实,但它被认为不太可能成为VK - JK重排及后续功能表达的候选基因。

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