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Siebenlist et al. (1981) isolated a family of DH gene segments (Dl, D2, D3, and D4) (Fig. 6a) and found that DH gene segments are tandemly arranged in repeating units of 9 kb. Ishihara et al. (1988) sequenced one of the 9-kb repeating units and identified five DH gene segments (DM1, DA1, DXP1, DXP’ 1, and DN1). DA1 may be a pseudogene because the rearrangement heptamer and nonamer sequences are poorly recognizable. , 1988). , 1988). , 1988). The D5 gene segment has been physically linked to a pseudo-VHIII gene segment located within 18 kb on the chromosome, and rearrangement or deletion MAPS OF IMMUNOGLOBULIN-LIKE LOCI 27 of the D5 gene segment has not been observed in any B cell lines.
1988). , 1988). , 1986). , 1988) indicated that the size of the locus is approximately 2000 to 3000 kb, assuming that the restriction fragments are arranged contiguously. The organization of the human heavy chain locus is summarized in Fig. 6b. Since the detailed organizations of each subregion have not been determined, each restriction fragment is shown with the unordered VH subgroup members which it contains. It has been estimated that in the mouse heavy chain locus, up to 40% of the VH gene segment repertoire may be pseudogenes (see above).
The Jy-C, clusters span slightly more than 30 kb of DNA. Like most of the other immunoglobulin-like loci, there are no V, gene segments located 3’ of the constant region genes. c. a- AND &CHAIN GENEFAMILIES Functional mouse and human T cell receptor a-chain variable regions are encoded by V, and Ja gene segments. Like the Vg and V, gene segments described above, V, gene segments consist of a small leader exon and a large second exon separated by an intron of 100 to 400 bp. An additional 16 to 25 amino acids of the a-chain variable domain are encoded by the Ja gene segments.