HGNC Approved Gene Symbol:IGH
Cytogenetic location:14q32.33 Genomic coordinates(GRCh38) :14:105,586,437-106,879,844 (from NCBI)
Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (e.g., IGHG1,147100), that provides effector or signaling functions. The heavy chain V region is encoded by 3 types of genes: V genes (see147070), joining (J) genes, and diversity (D) genes (see146910). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The heavy chain locus on chromosome 14 contains approximately 40 functional V genes, followed by approximately 25 functional D genes and approximately 6 functional J genes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals (Janeway et al., 2005).
The Ig heavy chain J gene cluster is located within the Ig heavy chain locus on chromosome 14q32.33 (Kirsch et al., 1982).
Brack, C., Hirama, M., Lenhart-Schuller, R., Tonegawa, S.A complete immunoglobulin gene is created by somatic recombination. Cell 15: 1-14, 1978. [PubMed:100225,related citations] [Full Text]
Gough, N. M., Bernard, O.Sequences of the joining region genes for immunoglobulin heavy chains and their role in generation of antibody diversity. Proc. Nat. Acad. Sci. 78: 509-513, 1981. [PubMed:6787590,related citations] [Full Text]
Janeway, C. A., Jr., Travers, P., Walport, M., Shlomchik, M. J.Immunobiology: The Immune System in Health and Disease. (6th ed.) New York: Garland Science Publishing (pub.) 2005. Pp. 103-106, and 135-139.
Kirsch, I. R., Morton, C. C., Nakahara, K., Leder, P.Human immunoglobulin heavy chain genes map to a region frequently involved in chromosomal translocations in malignant B-lymphocytes. Science 216: 301-302, 1982. [PubMed:6801764,related citations] [Full Text]
Newell, N., Richards, J. E., Tucker, P. W., Blattner, F. R.J genes for heavy chain immunoglobulins of mouse. Science 209: 1128-1132, 1980. [PubMed:6250219,related citations] [Full Text]
Alternative titles; symbols
HGNC Approved Gene Symbol: IGH
Cytogenetic location: 14q32.33 Genomic coordinates(GRCh38) : 14:105,586,437-106,879,844(from NCBI)
Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (e.g., IGHG1, 147100), that provides effector or signaling functions. The heavy chain V region is encoded by 3 types of genes: V genes (see 147070), joining (J) genes, and diversity (D) genes (see 146910). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The heavy chain locus on chromosome 14 contains approximately 40 functional V genes, followed by approximately 25 functional D genes and approximately 6 functional J genes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals (Janeway et al., 2005).
The Ig heavy chain J gene cluster is located within the Ig heavy chain locus on chromosome 14q32.33 (Kirsch et al., 1982).
Brack, C., Hirama, M., Lenhart-Schuller, R., Tonegawa, S.A complete immunoglobulin gene is created by somatic recombination. Cell 15: 1-14, 1978. [PubMed: 100225] [Full Text: https://doi.org/10.1016/0092-8674(78)90078-8]
Gough, N. M., Bernard, O.Sequences of the joining region genes for immunoglobulin heavy chains and their role in generation of antibody diversity. Proc. Nat. Acad. Sci. 78: 509-513, 1981. [PubMed: 6787590] [Full Text: https://doi.org/10.1073/pnas.78.1.509]
Janeway, C. A., Jr., Travers, P., Walport, M., Shlomchik, M. J.Immunobiology: The Immune System in Health and Disease. (6th ed.) New York: Garland Science Publishing (pub.) 2005. Pp. 103-106, and 135-139.
Kirsch, I. R., Morton, C. C., Nakahara, K., Leder, P.Human immunoglobulin heavy chain genes map to a region frequently involved in chromosomal translocations in malignant B-lymphocytes. Science 216: 301-302, 1982. [PubMed: 6801764] [Full Text: https://doi.org/10.1126/science.6801764]
Newell, N., Richards, J. E., Tucker, P. W., Blattner, F. R.J genes for heavy chain immunoglobulins of mouse. Science 209: 1128-1132, 1980. [PubMed: 6250219] [Full Text: https://doi.org/10.1126/science.6250219]
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