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IGH@
Identifikatori
Aliasi	IGH
Vanjski ID-jevi	OMIM: 146910, 147010, 147070 GeneCards: IGH
Ortolozi
	3492
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	n; a
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	Wikipodaci
Pogledaj/uredi – čovjek

Lokus imunoglobulinskog teškog lanca, znan i kao IGH, je regija ljudskog hromosoma 14 koja sadrži gen za teške lance ljudskih antitijela (ili imunoglobulina).^[2]

Imunoglobulini prepoznaju strane antigene i iniciraju imunski odgovor, kao što je fagocitoza i sistem komplementa. Svaka molekula imunoglobulina sastoji se od po dva identična teška lanca i lahka lanca. Ovo područje predstavlja klicnu organizaciju lokusa teškog lanca. Lokus uključuje V (varijabilni), D (raznoliki), J (spojni) i C (konstantni) segment. Tokom razvoja B-ćelija, rekombinacija na nivou DNK spaja jedan D segment sa J segmentom; stopljeni D-J egzon ove djelimično preuređene D-J regije se zatim pridružuje V segmentu. Preuređena -D-J regija koja sadrži fuzionisani V-D-J egzon se zatim transkribira i spaja na nivou RNK u konstantnu regiju IGHM; ovaj transkript kodira teški lanac. Kasnije u razvoju B-ćelije generiraju V-D-J-Cmu-Cdelta pre-iRNK, koja je alternativno prerađena da kodira ili mu ili delta teški lanac. Zrele B-ćelije u limfnim čvorovima prolaze rekombinaciju prekidača, tako da se stopljeni segment gena VDJ dovodi u blizinu jednog od segmenata gena IGHG, IGHA ili IGHE i svaka ćelija eksprimira bilo gama, alfa ili epsilon teški lanac. Potencijalna rekombinacija mnogih različitih V segmenata sa nekoliko J segmenata pruža širok spektar prepoznavanja antigena. Dodatna raznolikost postiže se spojem raznolikosti, što je rezultat slučajnog dodavanja nukleotida pomoću terminalne deoksinukleotidil-transferaze i somatske hipermutacije, koja se javlja tokom sazrijevanja B-ćelija u slezeni i limfnim čvorovima. Poznato je da nekoliko V, D, J i C segmenata nije sposobno kodirati protein i smatraju se pseudogenim genskim segmentima (često se jednostavno nazivaju pseudogenima).^[2]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 796 aminokiselina, a molekulska težina 82.659 Da.^[3].

10	20	30	40	50
MSAAQVSSSR	RQSCYLCDLP	RMPWAMIWDF	SEPVCRGCVN	YEGADRIEFV
IETARQLKRA	HGCFQDGRSP	GPPPPVGVKT	VALSAKEAAA	AAAAAAAAAA
AAQQQQQQQQ	QQQQQQQQQQ	QQQQQQQLNH	VDGSSKPAVL	AAPSGLERYG
LSAAAAAAAA	AAAAVEQRSR	FEYPPPPVSL	GSSSHTARLP	NGLGGPNGFP
KPTPEEGPPE	LNRQSPNSSS	AAASVASRRG	THGGLVTGLP	NPGGGGGPQL
TVPPNLLPQT	LLNGPASAAV	LPPPPPHALG	SRGPPTPAPP	GAPGGPACLG
GTPGVSATSS	SASSSTSSSV	AEVGVGAGGK	RPGSVSSTDQ	ERELKEKQRN
AEALAELSES	LRNRAEEWAS	KPKMVRDTLL	TLAGCTPYEV	RFKKDHSLLG
RVFAFDAVSK	PGMDYELKLF	IEYPTGSGNV	YSSASGVAKQ	MYQDCMKDFG
RGLSSGFKYL	EYEKKHGSGD	WRLLGDLLPE	AVRFFKEGVP	GADMLPQPYL
DASCPMLPTA	LVSLSRAPSA	PPGTGALPPA	APSGRGAAAS	LRKRKASPEP
PDSAEGALKL	GEEQQRQQWM	ANQSEALKLT	MSAGGFAAPG	HAAGGPPPPP
PPLGPHSNRT	TPPESAPQNG	PSPMAALMSV	ADTLGTAHSP	KDGSSVHSTT
ASARRNSSSP	VSPASVPGQR	RLASRNGDLN	LQVAPPPPSA	HPGMDQVHPQ
NIPDSPMANS	GPLCCTICHE	RLEDTHFVQC	PSVPSHKFCF	PCSRESIKAQ
GATGEVYCPS	GEKCPLVGSN	VPWAFMQGEI	ATILAGDVKV	KKERDP

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Nomenklatura

Simboli za varijabilne (V) segmente gena imunoglobulina počinju s IGHV i uključuju dva ili tri broja odvojena crticama. Primjeri:

IGHV1-2, IGHV1-3, …, IGHV1-69-2, IGHV2-5, …, IGHV7-4-1

Simboli segmenata gena imunoglobulinskih raznolikosti (D) počinju s IGHD i uključuju dva broja odvojena crticama. Primjeri:

IGHD1-1, IGHD1-7, …, IGHD7-27

Simboli za spajanje (J) segmenata gena imunoglobulina:

IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6

Simboli za gene imunoglobulina sa konstantnom regijom (C):

Teški lanac alfa (IgA): IGHA1, IGHA2

Teški lanac gama (IgG): IGHG1, IGHG2, IGHG3, IGHG4

Teški lanac delta (IgD): IGHD

Teški lanac epsilon (IgE): IGHE

Teški lanac mu (IgM): IGHM^[4]

Također pogledajte

IGHV@

Reference

^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: IGH immunoglobulin heavy locus".
^ "UniProt, Q9H1B7". Pristupljeno 26. 7. 2021.
^ "Gene Family: Immunoglobulin heavy locus at 14q32.33 (IGH)". HGNC: HUGO Gene Nomenclature Committee. Arhivirano s originala, 22. 1. 2018. Pristupljeno 26. 7. 2021.

Dopunska literatura

Tomlinson IM, Cook GP, Walter G, et al. (1995). "A complete map of the human immunoglobulin VH locus". Ann. N. Y. Acad. Sci. 764 (1): 43–6. Bibcode:1995NYASA.764...43T. doi:10.1111/j.1749-6632.1995.tb55804.x. PMID 7486559.
Word CJ, White MB, Kuziel WA, et al. (1991). "The human immunoglobulin C mu-C delta locus: complete nucleotide sequence and structural analysis". Int. Immunol. 1 (3): 296–309. doi:10.1093/intimm/1.3.296. PMID 2518659.
Buluwela L, Rabbitts TH (1989). "A VH gene is located within 95 Kb of the human immunoglobulin heavy chain constant region genes". Eur. J. Immunol. 18 (11): 1843–5. doi:10.1002/eji.1830181130. PMID 3144456.
Ichihara Y, Matsuoka H, Kurosawa Y (1989). "Organization of human immunoglobulin heavy chain diversity gene loci". EMBO J. 7 (13): 4141–50. doi:10.1002/j.1460-2075.1988.tb03309.x. PMC 455124. PMID 3243276.
Ravetch JV, Siebenlist U, Korsmeyer S, et al. (1993). "Structure of the human immunoglobulin mu locus: characterization of embryonic and rearranged J and D genes". Cell. 27 (3 Pt 2): 583–91. doi:10.1016/0092-8674(81)90400-1. PMID 6101209. S2CID 20229287.
Flanagan JG, Rabbitts TH (1983). "Arrangement of human immunoglobulin heavy chain constant region genes implies evolutionary duplication of a segment containing gamma, epsilon and alpha genes". Nature. 300 (5894): 709–13. doi:10.1038/300709a0. PMID 6817141. S2CID 4335031.
Mills FC, Harindranath N, Mitchell M, Max EE (1997). "Enhancer complexes located downstream of both human immunoglobulin Calpha genes". J. Exp. Med. 186 (6): 845–58. doi:10.1084/jem.186.6.845. PMC 2199054. PMID 9294139.
Matsuda F, Ishii K, Bourvagnet P, et al. (1999). "The complete nucleotide sequence of the human immunoglobulin heavy chain variable region locus". J. Exp. Med. 188 (11): 2151–62. doi:10.1084/jem.188.11.2151. PMC 2212390. PMID 9841928.
Dudley DD, Manis JP, Zarrin AA, et al. (2002). "Internal IgH class switch region deletions are position-independent and enhanced by AID expression". Proc. Natl. Acad. Sci. U.S.A. 99 (15): 9984–9. Bibcode:2002PNAS...99.9984D. doi:10.1073/pnas.152333499. PMC 126611. PMID 12114543.
Zhou J, Ashouian N, Delepine M, et al. (2002). "The origin of a developmentally regulated Igh replicon is located near the border of regulatory domains for Igh replication and expression". Proc. Natl. Acad. Sci. U.S.A. 99 (21): 13693–8. Bibcode:2002PNAS...9913693Z. doi:10.1073/pnas.212392399. PMC 129745. PMID 12370427.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Li A, Rue M, Zhou J, et al. (2004). "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". Blood. 103 (12): 4602–9. doi:10.1182/blood-2003-11-3857. PMID 15010366.
Hallermann C, Kaune KM, Gesk S, et al. (2004). "Molecular cytogenetic analysis of chromosomal breakpoints in the IGH, MYC, BCL6, and MALT1 gene loci in primary cutaneous B-cell lymphomas". J. Invest. Dermatol. 123 (1): 213–9. doi:10.1111/j.0022-202X.2004.22720.x. PMID 15191563.
Sepulveda MA, Garrett FE, Price-Whelan A, Birshtein BK (2005). "Comparative analysis of human and mouse 3' Igh regulatory regions identifies distinctive structural features". Mol. Immunol. 42 (5): 605–15. doi:10.1016/j.molimm.2004.09.006. PMID 15607820.
Streubel B, Vinatzer U, Lamprecht A, et al. (2005). "T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma". Leukemia. 19 (4): 652–8. doi:10.1038/sj.leu.2403644. PMID 15703784.
Knezevich S, Ludkovski O, Salski C, et al. (2005). "Concurrent translocation of BCL2 and MYC with a single immunoglobulin locus in high-grade B-cell lymphomas". Leukemia. 19 (4): 659–63. doi:10.1038/sj.leu.2403661. PMID 15716988.
Rack K, Delannoy A, Ravoet C, et al. (2005). "Translocation of BCL2 and BCL6 to the same immunoglobulin heavy chain locus in a case of follicular lymphoma". Leuk. Lymphoma. 46 (10): 1513–6. doi:10.1080/10428190500125648. PMID 16194898. S2CID 10501344.

Šablon:Imunski proteini

[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-2] "Entrez Gene: IGH immunoglobulin heavy locus".

[UniProt-3] "UniProt, Q9H1B7". Pristupljeno 26. 7. 2021.

[4] "Gene Family: Immunoglobulin heavy locus at 14q32.33 (IGH)". HGNC: HUGO Gene Nomenclature Committee. Arhivirano s originala, 22. 1. 2018. Pristupljeno 26. 7. 2021.

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IGH@

Aminokiselinska sekvenca

Nomenklatura

Također pogledajte

Reference

Dopunska literatura

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