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KIR3DL3 – KIR3DL3

Selvakumar A, Steffens U, Dupont B. Selvakumar A, et al. Tissue Antigens. 1996 Oct;48(4 Pt 1):285-94. doi: 10.1111/j.1399-0039.1996.tb02647.x. Tissue Antigens. 1996. PMID: 8946682

Molecular characterization of KIR3DL3

Killer-cell immunoglobulin-like receptors (KIRs) are a structurally and functionally diverse family of molecules expressed by natural killer (NK) cells and T-cell subsets. The most centromeric gene in the human KIR cluster is KIR3DL3, a framework gene that is present in all haplotypes. KIR3DL3 has only one immunoreceptor tyrosine-based inhibitory motif and lacks the exon encoding the stem between the Immunoglobulin domains and the transmembrane region. We have investigated expression of KIR3DL3 in blood and decidual NK cells by reverse transcriptase polymerase chain reaction (RT-PCR) and protein analysis using a KIR3DL3-specific monoclonal antibody, CH21. KIR3DL3 mRNA was only detected in the CD56(bright) subset in cells from peripheral blood and in CD56(bright) decidual NK cells. The CD56(bright) NK92 cell line was also positive. Quantitative RT-PCR indicated a trend for higher expression of KIR3DL3 in female peripheral blood mononuclear cells compared to that in male. Using a bisulphite conversion method, we found that the promoter of KIR3DL3 was strongly methylated. Surface protein expression was detectable after demethylation. Like other KIRs, KIR3DL3 is highly polymorphic, and we detected 14 variants in 25 unrelated individuals. Nucleotide substitutions were scattered throughout the sequence, with a cluster of alleles at the start of the transmembrane region at the site where the remnant of the linking stem present in other KIR is found. We conclude that the KIR3DL3 gene is not a pseudogene but encodes a protein that is not expressed in healthy individuals. Protein expression might be induced under certain developmental or pathological situations.

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References

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    KIR3DL3 – KIR3DL3

    Killer hujayrasi immunoglobulinga o’xshash retseptorlari (KIR) bu transmembranli glikoproteinlar bo’lib, tabiiy killer hujayralari va T hujayralarining pastki qismlari tomonidan ifodalanadi. KIR genlari polimorf va yuqori darajada gomologik bo’lib, ular 1 Mb ichida 19q13.4 xromosoma klasterida uchraydi. leykotsitlar retseptorlari kompleksi (LRC). KIR gen klasterining gen tarkibi haplotiplar orasida turlicha, garchi barcha haplotiplarda bir nechta “ramka” genlari mavjud (KIR3DL3, KIR3DP1, KIR2DL4, KIR3DL2). KIR oqsillari hujayradan tashqari immunoglobulin domenlari soni (2D yoki 3D) va ularning uzun (L) yoki qisqa (S) sitoplazmik domeniga ega ekanligi bo’yicha tasniflanadi. Uzoq sitoplazmik domenga ega bo’lgan KIR oqsillari immun tirozin asosidagi inhibitiv motif (ITIM) orqali ligand bog’lanishida inhibitiv signallarni o’tkazadi, qisqa sitoplazmik domenga ega bo’lgan KIR oqsillarida ITIM motifi yo’q va uning o’rniga transduktsiya uchun TYRO protein tirozin kinaz bilan bog’langan oqsil birikadi. signallarni faollashtirish. Bir nechta KIR oqsillari uchun ligandlar HLA I sinf molekulalarining quyi to’plamlari; Shunday qilib, KIR oqsillari immunitet reaktsiyasini boshqarishda muhim rol o’ynaydi. Ushbu gen barcha haplotiplarda mavjud bo’lgan “ramka” lokuslaridan biridir. [6]

    Adabiyotlar

    1. ^ abvENSG00000283823, ENSG00000274511, ENSG00000276196, ENSG00000275433, ENSG00000276086, ENSG00000283875, ENSG00000274480, ENSG00000277392, ENSG00000274786, ENSG00000274724, ENSG00000276930, ENSG00000276572, ENSG00000284371, ENSG00000276084, ENSG00000284104, ENSG00000278729, ENSG00000277028, ENSG00000275062, ENSG00000274763, ENSG00000276433, ENSG00000274639, ENSG00000283966, ENSG00000284127, ENSG00000277552, ENSG00000278490, ENSG00000276806, ENSG00000242019, ENSG00000276328, ENSG00000276875, ENSG00000274556, ENSG00000283915, ENSG00000284086, ENSG00000278723, ENSG00000284480, ENSG00000273502, ENSG00000274254, ENSG00000275172, ENSG00000275513, ENSG00000277620, ENSG00000274696 GRCh38: Ensembl relizlar 89: ENSG00000274394, ENSG00000283823, ENSG00000274511, ENSG00000276196, ENSG00000275433, ENSG00000276086, ENSG00000283875, ENSG00000274480 , ENSG00000277392, ENSG00000274786, ENSG00000274724, ENSG00000276930, ENSG00000276572, ENSG00000284371, ENSG00000276084, ENSG00000284104, ENSG00000278729, ENSG 00000277028, ENSG00000275062, ENSG00000274763, ENSG00000276433, ENSG00000274639, ENSG00000283966, ENSG00000284127, ENSG00000277552, ENSG00000278490, ENSG00000276806, ENSG00000242019, ENSG00000276328, ENSG00000276875, ENSG00000274556, ENSG00000283915, ENSG00000284086, ENSG00000278723, ENSG00000284480, ENSG00000273502, ENSG00000274254, ENSG00000275172, ENSG00000275513, ENSG00000277620, ENSG00000274696 – Ansambl, 2017 yil may
    2. ^ abvGRCm38: Ensembl relizi 89: ENSMUSG00000057439 – Ansambl, 2017 yil may
    3. ^“Human PubMed ma’lumotnomasi:”. Milliy Biotexnologiya Axborot Markazi, AQSh Milliy Tibbiyot Kutubxonasi.
    4. ^“Sichqoncha PubMed ma’lumotnomasi:”. Milliy Biotexnologiya Axborot Markazi, AQSh Milliy Tibbiyot Kutubxonasi.
    5. ^ Long EO, Barber DF, Burshtyn DN, Faure M, Peterson M, Rajagopalan S, Renard V, Sandusky M, Stebbins CC, Wagtmann N, Watzl C (Avgust 2001). “Killer hujayra immunoglobuliniga o’xshash retseptorlari (CD158) tomonidan tabiiy killer xujayralari faollashuvi signallarini inhibe qilish”. Immunol rev. 181: 223–233. doi:10.1034 / j.1600-065X.2001.1810119.x. PMID11513144. S2CID13312691.
    6. ^ ab“Entrez Gen: KIR3DL3 qotil hujayrasi immunoglobulinga o’xshash retseptorlari, uchta domen, uzun sitoplazmatik quyruq, 3”.

    Qo’shimcha o’qish

    • Dou LP, Zheng DH, Vang C va boshq. (2008). “Xitoyning Shimoliy Xan populyatsiyasidagi KIR genining xilma-xilligi va donor KIR va bemor HLA genotiplarining HLA bilan bir xil bo’lgan birodar allogenik hematopoetik ildiz hujayralari transplantatsiyasi natijasida xitoyliklarda gematologik malignite”. Int. J. Gematol. 87 (4): 422–433. doi:10.1007 / s12185-008-0058-7. PMID18347914. S2CID32702080.
    • Pavlova Y, Kolesar L, Striz I va boshq. (2008). “Chexiya aholisida KIR genlarining tarqalishi”. Int. J. Immunogenet. 35 (1): 57–61. doi:10.1111 / j.1744-313X.2007.00737.x. PMID18186800. S2CID25268211.
    • Zhi-ming L, Yu-lian J, Zhao-lei F va boshqalar. (2008). “Qotil hujayra immunoglobuliniga o’xshash retseptorlari genining polimorfizmlari: xitoylik Xan populyatsiyasida gepatit B virusi infektsiyasiga moyilligi yoki tozalanishi bilan bog’liqlik”. Xorvat. Med. J. 48 (6): 800–807. doi:10.3325 / cmj.2007.6.800. PMC2213808 . PMID18074414.
    • Midlton D, Meenagh A, Sleator C va boshq. (2007). “KIR genlarining Behchet kasalligi bilan aloqasi yo’q”. To’qimalarning antigenlari. 70 (5): 435–438. doi:10.1111 / j.1399-0039.2007.00929.x. PMID17868255.
    • Flores AC, Marcos CY, Paladino N va boshq. (2007). “Argentina Kavkaz va Amerindian populyatsiyalarida KIR genlari polimorfizmi”. To’qimalarning antigenlari. 69 (6): 568–576. doi:10.1111 / j.1399-0039.2007.00824.x. PMID17498266.
    • Chen AM, Guo XM, Yan VY va boshqalar. (2007). “[Killer hujayrasi immunoglobulinga o’xshash retseptorlari genining polimorfizmi va uning leykemiya bilan o’zaro aloqasi]”. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 15 (1): 35–8. PMID17490516.
    • Jons DC, Hiby SE, Moffett A va boshq. (2006). “KIR3DL3 lokusidagi allelik ketma-ketligi polimorfizmi”. Immunogenetika. 58 (8): 614–627. doi:10.1007 / s00251-006-0130-5. PMID16823588. S2CID6120931.
    • Shtayner NK, Xerli KK (2006). “KIR3DL3 allelik xilma-xilligi: oltita yangi allel konservativ va konservativ bo’lmagan almashtirishlarni namoyish etadi”. To’qimalarning antigenlari. 67 (4): 277–283. doi:10.1111 / j.1399-0039.2006.00567.x. PMID16634863.
    • Zhu FM, Jiang K, Lü QF va boshq. (2005). “[Chjetszyan Xan populyatsiyasida qotil hujayra immunoglobuliniga o’xshash retseptorlari genlari oilasining polimorfizmi]”. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 13 (6): 1109–12. PMID16403292.
    • Trundley AE, Hiby SE, Chang C va boshq. (2006). “KIR3DL3 ning molekulyar tavsifi”. Immunogenetika. 57 (12): 904–916. doi:10.1007 / s00251-005-0060-7. PMID16391939. S2CID25125407.
    • Jiang K, Zhu FM, Lv QF, Yan LX (2005). “Xitoylik Xan populyatsiyasida killer hujayrasi immunoglobulinga o’xshash retseptorlari genlarining tarqalishi”. To’qimalarning antigenlari. 65 (6): 556–563. doi:10.1111 / j.1399-0039.2005.00412.x. PMID15896204.
    • Trompeter HI, Gomes-Lozano N, Santourlidis S va boshq. (2005). “Uchta tarkibiy va funktsional jihatdan ajralib turadigan promotorlar klonal taqsimlangan killer hujayra Ig-ga o’xshash retseptorlari (KIR), KIR2DL4 va KIR3DL3 ekspressionini tartibga soladi”. J. Immunol. 174 (7): 4135–43. doi: 10.4049 / jimmunol.174.7.4135 . PMID15778373.
    • Arnxaym L, Dillner J, Sanjeevi KB (2005). “KIR genlari va genotiplarini servikal intraepitelial neoplaziyaga nisbatan populyatsiyaga asoslangan kohort tadqiqot”. To’qimalarning antigenlari. 65 (3): 252–259. doi:10.1111 / j.1399-0039.2005.00359.x. PMID15730517.
    • Norman PJ, Carrington CV, Byng M va boshq. (2002). “Afrika va Janubiy Osiyo populyatsiyalaridagi tabiiy qotil hujayralardagi immunoglobulinga o’xshash retseptorlari (KIR) joylashuvi”. Genlar immuniteti. 3 (2): 86–95. doi: 10.1038 / sj.gene.6363836 . PMID11960306.
    • Torkar M, Norgate Z, Colonna M va boshq. (1999). “Leykotsitlar retseptorlari majmuasidagi yangi immunoglobulinga o’xshash transkript / killer hujayrasi inhibitori retseptorlari lokuslarining izotipik o’zgarishi”. Yevro. J. Immunol. 28 (12): 3959–3967. doi:10.1002 / (SICI) 1521-4141 (199812) 28:12 3.0.CO; 2-2. PMID9862332.

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    KIR3DL3

    Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several “framework” genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR2DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the “framework” loci that is present on all haplotypes. [2]

    References

    1. ↑ Long EO, Barber DF, Burshtyn DN, Faure M, Peterson M, Rajagopalan S, Renard V, Sandusky M, Stebbins CC, Wagtmann N, Watzl C (Aug 2001). “Inhibition of natural killer cell activation signals by killer cell immunoglobulin-like receptors (CD158)”. Immunol Rev. 181: 223–233. doi:10.1034/j.1600-065X.2001.1810119.x. PMID11513144.
    2. ↑ 2.02.1″Entrez Gene: KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3″.

    Further reading

    • Dou LP, Zheng DH, Wang C, et al. (2008). “The diversity of KIR gene in Chinese Northern Han population and the impact of donor KIR and patient HLA genotypes on outcome following HLA-identical sibling allogeneic hematopoietic stem cell transplantation for hematological malignancy in Chinese people”. Int. J. Hematol. 87 (4): 422–433. doi:10.1007/s12185-008-0058-7. PMID18347914.
    • Pavlova Y, Kolesar L, Striz I, et al. (2008). “Distribution of KIR genes in the Czech population”. Int. J. Immunogenet. 35 (1): 57–61. doi:10.1111/j.1744-313X.2007.00737.x. PMID18186800.
    • Zhi-ming L, Yu-lian J, Zhao-lei F, et al. (2008). “Polymorphisms of killer cell immunoglobulin-like receptor gene: possible association with susceptibility to or clearance of hepatitis B virus infection in Chinese Han population”. Croat. Med. J. 48 (6): 800–807. doi:10.3325/cmj.2007.6.800. PMC2213808 . PMID18074414.
    • Middleton D, Meenagh A, Sleator C, et al. (2007). “No association of KIR genes with Behcet’s disease”. Tissue Antigens. 70 (5): 435–438. doi:10.1111/j.1399-0039.2007.00929.x. PMID17868255.
    • Flores AC, Marcos CY, Paladino N, et al. (2007). “KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations”. Tissue Antigens. 69 (6): 568–576. doi:10.1111/j.1399-0039.2007.00824.x. PMID17498266.
    • Chen AM, Guo XM, Yan WY, et al. (2007). “[Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia]”. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 15 (1): 35–8. PMID17490516.
    • Jones DC, Hiby SE, Moffett A, et al. (2006). “Nature of allelic sequence polymorphism at the KIR3DL3 locus”. Immunogenetics. 58 (8): 614–627. doi:10.1007/s00251-006-0130-5. PMID16823588.
    • Steiner NK, Hurley CK (2006). “KIR3DL3 allelic diversity: six new alleles exhibit both conservative and non-conservative substitutions”. Tissue Antigens. 67 (4): 277–283. doi:10.1111/j.1399-0039.2006.00567.x. PMID16634863.
    • Zhu FM, Jiang K, Lü QF, et al. (2005). “[Polymorphism of killer cell immunoglobulin-like receptors gene family in Zhejiang Han population]”. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 13 (6): 1109–12. PMID16403292.
    • Trundley AE, Hiby SE, Chang C, et al. (2006). “Molecular characterization of KIR3DL3”. Immunogenetics. 57 (12): 904–916. doi:10.1007/s00251-005-0060-7. PMID16391939.
    • Jiang K, Zhu FM, Lv QF, Yan LX (2005). “Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population”. Tissue Antigens. 65 (6): 556–563. doi:10.1111/j.1399-0039.2005.00412.x. PMID15896204.
    • Trompeter HI, Gómez-Lozano N, Santourlidis S, et al. (2005). “Three structurally and functionally divergent kinds of promoters regulate expression of clonally distributed killer cell Ig-like receptors (KIR), of KIR2DL4, and of KIR3DL3”. J. Immunol. 174 (7): 4135–43. doi:10.4049/jimmunol.174.7.4135. PMID15778373.
    • Arnheim L, Dillner J, Sanjeevi CB (2005). “A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia”. Tissue Antigens. 65 (3): 252–259. doi:10.1111/j.1399-0039.2005.00359.x. PMID15730517.
    • Norman PJ, Carrington CV, Byng M, et al. (2002). “Natural killer cell immunoglobulin-like receptor (KIR) locus profiles in African and South Asian populations”. Genes Immun. 3 (2): 86–95. doi:10.1038/sj.gene.6363836. PMID11960306.
    • Torkar M, Norgate Z, Colonna M, et al. (1999). “Isotypic variation of novel immunoglobulin-like transcript/killer cell inhibitory receptor loci in the leukocyte receptor complex”. Eur. J. Immunol. 28 (12): 3959–3967. doi:10.1002/(SICI)1521-4141(199812)28:123.0.CO;2-2. PMID9862332.

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    • Genes on human chromosome
    • Immunoglobulin superfamily

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