| 释义 |
- Nomenclature
- See also
- References
- Further reading
{{Infobox_gene}}Immunoglobulin heavy locus, also known as IGH, is a region on human chromosome 14 that contains a gene for the heavy chains of human antibodies (or immunoglobulins).[1]Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; the fused D-J exon of this partially rearranged D-J region is then joined to a V segment. The rearranged V-D-J region containing a fused V-D-J exon is then transcribed and fused at the RNA level to the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the fused V-D-J gene segment is brought in proximity to one of the IGHG, IGHA, or IGHE gene segments and each cell expresses either the gamma, alpha, or epsilon heavy chain. Potential recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyl transferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V, D, J, and C segments are known to be incapable of encoding a protein and are considered pseudogenous gene segments (often simply referred to as pseudogenes).[1] NomenclatureSymbols for variable (V) immunoglobulin genes start with IGHV and include two or three numbers separated by dashes. Examples: IGHV1-2, IGHV1-3, …, IGHV1-69-2, IGHV2-5, …, IGHV7-4-1 Symbols for diversity (D) immunoglobulin genes start with IGHD and include two numbers separated by dashes. Examples: IGHD1-1, IGHD1-7, …, IGHD7-27 Symbols for joining (J) immunoglobulin genes: IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6 Symbols for constant region (C) immunoglobulin genes: Heavy chain alpha (IgA): IGHA1, IGHA2 Heavy chain gamma (IgG): IGHG1, IGHG2, IGHG3, IGHG4 Heavy chain delta (IgD): IGHD Heavy chain epsilon (IgE): IGHE Heavy chain mu (IgM): IGHM [2] See alsoReferences1. ^1 {{cite web | title = Entrez Gene: IGH immunoglobulin heavy locus| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3492| accessdate = }}
2. ^{{cite web|title=Gene Family: Immunoglobulin heavy locus at 14q32.33 (IGH)|url=https://www.genenames.org/cgi-bin/genefamilies/set/349|publisher=HGNC: HUGO Gene Nomenclature Committee}}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Tomlinson IM, Cook GP, Walter G, etal |title=A complete map of the human immunoglobulin VH locus. |journal=Ann. N. Y. Acad. Sci. |volume=764 |issue= |pages= 43–6 |year= 1995 |pmid= 7486559 |doi=10.1111/j.1749-6632.1995.tb55804.x }}
- {{cite journal |vauthors=Word CJ, White MB, Kuziel WA, etal |title=The human immunoglobulin C mu-C delta locus: complete nucleotide sequence and structural analysis. |journal=Int. Immunol. |volume=1 |issue= 3 |pages= 296–309 |year= 1991 |pmid= 2518659 |doi=10.1093/intimm/1.3.296 }}
- {{cite journal |vauthors=Buluwela L, Rabbitts TH |title=A VH gene is located within 95 Kb of the human immunoglobulin heavy chain constant region genes. |journal=Eur. J. Immunol. |volume=18 |issue= 11 |pages= 1843–5 |year= 1989 |pmid= 3144456 |doi=10.1002/eji.1830181130 }}
- {{cite journal |vauthors=Ichihara Y, Matsuoka H, Kurosawa Y |title=Organization of human immunoglobulin heavy chain diversity gene loci. |journal=EMBO J. |volume=7 |issue= 13 |pages= 4141–50 |year= 1989 |pmid= 3243276 |doi= 10.1002/j.1460-2075.1988.tb03309.x| pmc=455124 }}
- {{cite journal |vauthors=Ravetch JV, Siebenlist U, Korsmeyer S, etal |title=Structure of the human immunoglobulin mu locus: characterization of embryonic and rearranged J and D genes. |journal=Cell |volume=27 |issue= 3 Pt 2 |pages= 583–91 |year= 1993 |pmid= 6101209 |doi=10.1016/0092-8674(81)90400-1 }}
- {{cite journal |vauthors=Flanagan JG, Rabbitts TH |title=Arrangement of human immunoglobulin heavy chain constant region genes implies evolutionary duplication of a segment containing gamma, epsilon and alpha genes. |journal=Nature |volume=300 |issue= 5894 |pages= 709–13 |year= 1983 |pmid= 6817141 |doi=10.1038/300709a0 }}
- {{cite journal |vauthors=Mills FC, Harindranath N, Mitchell M, Max EE |title=Enhancer complexes located downstream of both human immunoglobulin Calpha genes. |journal=J. Exp. Med. |volume=186 |issue= 6 |pages= 845–58 |year= 1997 |pmid= 9294139 |doi=10.1084/jem.186.6.845 | pmc=2199054 }}
- {{cite journal |vauthors=Matsuda F, Ishii K, Bourvagnet P, etal |title=The complete nucleotide sequence of the human immunoglobulin heavy chain variable region locus. |journal=J. Exp. Med. |volume=188 |issue= 11 |pages= 2151–62 |year= 1999 |pmid= 9841928 |doi=10.1084/jem.188.11.2151 | pmc=2212390 }}
- {{cite journal |vauthors=Dudley DD, Manis JP, Zarrin AA, etal |title=Internal IgH class switch region deletions are position-independent and enhanced by AID expression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 15 |pages= 9984–9 |year= 2002 |pmid= 12114543 |doi= 10.1073/pnas.152333499 | pmc=126611 }}
- {{cite journal |vauthors=Zhou J, Ashouian N, Delepine M, etal |title=The origin of a developmentally regulated Igh replicon is located near the border of regulatory domains for Igh replication and expression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 21 |pages= 13693–8 |year= 2002 |pmid= 12370427 |doi= 10.1073/pnas.212392399 | pmc=129745 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Li A, Rue M, Zhou J, etal |title=Utilization of Ig heavy chain variable, diversity, and joining gene segments in children with B-lineage acute lymphoblastic leukemia: implications for the mechanisms of VDJ recombination and for pathogenesis. |journal=Blood |volume=103 |issue= 12 |pages= 4602–9 |year= 2004 |pmid= 15010366 |doi= 10.1182/blood-2003-11-3857 }}
- {{cite journal |vauthors=Hallermann C, Kaune KM, Gesk S, etal |title=Molecular cytogenetic analysis of chromosomal breakpoints in the IGH, MYC, BCL6, and MALT1 gene loci in primary cutaneous B-cell lymphomas. |journal=J. Invest. Dermatol. |volume=123 |issue= 1 |pages= 213–9 |year= 2004 |pmid= 15191563 |doi= 10.1111/j.0022-202X.2004.22720.x }}
- {{cite journal |vauthors=Sepulveda MA, Garrett FE, Price-Whelan A, Birshtein BK |title=Comparative analysis of human and mouse 3' Igh regulatory regions identifies distinctive structural features. |journal=Mol. Immunol. |volume=42 |issue= 5 |pages= 605–15 |year= 2005 |pmid= 15607820 |doi= 10.1016/j.molimm.2004.09.006 }}
- {{cite journal |vauthors=Streubel B, Vinatzer U, Lamprecht A, etal |title=T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma. |journal=Leukemia |volume=19 |issue= 4 |pages= 652–8 |year= 2005 |pmid= 15703784 |doi= 10.1038/sj.leu.2403644 }}
- {{cite journal |vauthors=Knezevich S, Ludkovski O, Salski C, etal |title=Concurrent translocation of BCL2 and MYC with a single immunoglobulin locus in high-grade B-cell lymphomas. |journal=Leukemia |volume=19 |issue= 4 |pages= 659–63 |year= 2005 |pmid= 15716988 |doi= 10.1038/sj.leu.2403661 }}
- {{cite journal |vauthors=Rack K, Delannoy A, Ravoet C, etal |title=Translocation of BCL2 and BCL6 to the same immunoglobulin heavy chain locus in a case of follicular lymphoma. |journal=Leuk. Lymphoma |volume=46 |issue= 10 |pages= 1513–6 |year= 2005 |pmid= 16194898 |doi= 10.1080/10428190500125648 }}
{{refend}}{{Immune proteins}}{{DEFAULTSORT:IGH}}{{protein-stub}} 1 : Antibodies |