IGH@

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

IGH@
Identifikatori
Aliasi	IGH
Vanjski ID-jevi	OMIM: 146910, 147010, 147070 GeneCards: IGH
Ortolozi
Vrste	Čovjek	Miš
Entrez	3492	n/a
Ensembl	n/a	n/a
UniProt	n a	n/a
RefSeq (mRNK)	n/a	n/a
RefSeq (bjelančevina)	n/a	n/a
Lokacija (UCSC)	n/a	n/a
PubMed pretraga		n/a
Wikipodaci
Pogledaj/uredi – čovjek

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).

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 796 aminokiselina, a molekulska težina 82.659 Da..

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

Također pogledajte

• IGHV@

Dopunska literatura

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• 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.
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