Baer R, Chen K C, Smith S D, Rabbitts T H
Cell. 1985 Dec;43(3 Pt 2):705-13. doi: 10.1016/0092-8674(85)90243-0.
An inversion of chromosome 14, inv(14)(q11,q32), is frequently observed in human T cell tumors; the cytogenetic breakpoints are of interest because the T cell receptor alpha-chain and immunoglobulin heavy chain genes reside on chromosome bands 14q11 and 14q32, respectively. We have investigated the structure of the alpha-chain genes in a T cell line harboring the chromosome 14 inversion. On the normal chromosome 14, a V alpha segment has rearranged nonproductively with a J alpha segment. In contrast, the inverted chromosome features an unprecedented rearrangement in which an immunoglobulin heavy chain variable gene segment (VH) on chromosome band 14q32 has joined with a J alpha segment from band 14q11. The VH-J alpha C alpha rearrangement is productive at the genomic level and therefore may encode a hybrid immunoglobulin/T cell receptor polypeptide.
14号染色体倒位,inv(14)(q11,q32),在人类T细胞肿瘤中经常被观察到;细胞遗传学断点备受关注,因为T细胞受体α链基因和免疫球蛋白重链基因分别位于14号染色体的14q11和14q32带上。我们研究了一个携带14号染色体倒位的T细胞系中α链基因的结构。在正常的14号染色体上,一个Vα片段与一个Jα片段发生了无效重排。相比之下,倒位的染色体呈现出一种前所未有的重排,其中位于14q32带上的免疫球蛋白重链可变基因片段(VH)与来自14q11带的一个Jα片段连接在一起。VH-Jα-Cα重排在基因组水平上是有效的,因此可能编码一种杂合的免疫球蛋白/T细胞受体多肽。