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Gene Review: 

IGHV@  -  immunoglobulin heavy variable group

Homo sapiens

Synonyms: Ig heavy chain V-III region VH26
 
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Disease relevance of IGHV@

  • We studied immunoglobulin variable heavy-chain (IGHV) repertoire and mutational status in 553 patients with chronic lymphocytic leukemia (CLL) from the Mediterranean area to gain insight into the potential pathogenetic role of antigenic stimulation [1].
 

High impact information on IGHV@

  • We have previously shown that the cytogenetic breakpoints of one t(14;14)(q11;q32) chromosome and two inv(14)(q11;q32) chromosomes in T-cell tumors from AT and non-AT patients join the T-cell receptor alpha chain locus, at chromosome band 14q11, with a region(s) at 14q32 centromeric of the immunoglobulin heavy chain variable region (VH) gene IGHV [2].
  • The most commonly represented IGHV genes mirrored the usage of normal B cells, with the exception of IGHV1-18, IGHV3-30.3, and IGHV4-59 that were underrepresented [1].
  • Geographic patterns and pathogenetic implications of IGHV gene usage in chronic lymphocytic leukemia: the lesson of the IGHV3-21 gene [1].
  • We propose that the human IGHV repertoire carries inherent motifs that allow an antibody response to develop efficiently by targeting codon deletion events to the parts of the molecule that are likely to be able to harbor such modifications [3].
  • In order to better understand the process of codon deletion, we have analyzed the human immunoglobulin heavy variable (IGHV) germline gene repertoire for the presence of trinucleotide repeats [3].
 

Biological context of IGHV@

  • In silico analysis of the IGH variable (IGHV) DNA sequence (NT_001716.v1) was performed to identify BAC probes located within the IGHV cluster [4].
  • We have identified seven BAC end-sequenced probes (3087C18, 47P23, 76N15, 12F16, 101G24, 112H5, and 151B17) covering 612 kb of the distal IGHV cluster, which, together with probes covering the IGHC cluster (11771 and 998D24), could be used in interphase nuclei and metaphase chromosome analysis [4].
  • Results of the present study indicate that deletions/insertions together with other possible chromosomal rearrangements may play an important role in forming the genetic structure of the IGHV region, and may significantly contribute to antibody diversity [5].
  • Organization of the IGHV genes (n=108) on single human chromosomes has been determined by detecting these sequences in single sperm using multiplex PCR amplification followed by microarray detection [5].
  • In this study the IGHV gene usage of anti-Rh-producing B cells in a woman who was immunized in the last trimester of her pregnancy was analyzed [6].
 

Anatomical context of IGHV@

  • A visual split of the IGHV and IGHC clusters indicating a translocation was analyzed by dual-color FISH in a series of 21 cell lines of different origins [4].
 

Analytical, diagnostic and therapeutic context of IGHV@

References

  1. Geographic patterns and pathogenetic implications of IGHV gene usage in chronic lymphocytic leukemia: the lesson of the IGHV3-21 gene. Ghia, P., Stamatopoulos, K., Belessi, C., Moreno, C., Stella, S., Guida, G., Michel, A., Crespo, M., Laoutaris, N., Montserrat, E., Anagnostopoulos, A., Dighiero, G., Fassas, A., Caligaris-Cappio, F., Davi, F. Blood (2005)
  2. Analysis of a T-cell tumor-specific breakpoint cluster at human chromosome 14q32. Mengle-Gaw, L., Albertson, D.G., Sherrington, P.D., Rabbitts, T.H. Proc. Natl. Acad. Sci. U.S.A. (1988)
  3. Uneven distribution of repetitive trinucleotide motifs in human immunoglobulin heavy variable genes. Lantto, J., Ohlin, M. J. Mol. Evol. (2002)
  4. Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B-cell malignancies using end-sequenced probes. Poulsen, T.S., Silahtaroglu, A.N., Gisselø, C.G., Gaarsdal, E., Rasmussen, T., Tommerup, N., Johnsen, H.E. Genes Chromosomes Cancer (2001)
  5. Determination of gene organization in the human IGHV region on single chromosomes. Chimge, N.O., Pramanik, S., Hu, G., Lin, Y., Gao, R., Shen, L., Li, H. Genes Immun. (2005)
  6. The restricted use of IGHV3 superspecies genes in anti-Rh is not limited to hyperimmunized anti-D donors. Dohmen, S.E., Verhagen, O.J., Muit, J., Ligthart, P.C., van der Schoot, C.E. Transfusion (2006)
  7. Clinical, immunophenotypic, and molecular profiling of trisomy 12 in chronic lymphocytic leukemia and comparison with other karyotypic subgroups defined by cytogenetic analysis. Athanasiadou, A., Stamatopoulos, K., Tsompanakou, A., Gaitatzi, M., Kalogiannidis, P., Anagnostopoulos, A., Fassas, A., Tsezou, A. Cancer Genet. Cytogenet. (2006)
 

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