헤모글로빈, 알파 2
Hemoglobin, alpha 2
헤모글로빈, 알파2는[5] 인간에서 헤모글로빈의 알파 글로빈 체인을 암호화하는 유전자다.[6][7]
함수
인간 알파 글로빈 유전자 클러스터는 16번 염색체에 위치하며, 7개의 알파 같은 글로빈 유전자와 5'-HBZ - HBZP1 - HBM - HBAB1 - HBQ1 - 3'을 포함하여 약 30 kb에 이른다.HBA2(α2)와 HBA1(α1) 코딩 시퀀스는 동일하다.이 유전자들은 5개의 미통역 영역과 인트론에서 약간 다르지만, 3개의 미통역 영역에서는 상당히 다르다.
단백질
정상적인 성인 생활에서 두 개의 알파 체인과 두 개의 베타 체인은 HbA를 구성하며, 알파 체인은 전체 헤모글로빈 중 약 97%를 차지하고, 알파 체인은 델타 체인과 결합하여 HbA-2를 구성하며, HbF(페탈 헤모글로빈)와 함께 나머지 3%를 차지한다.
임상적 유의성
알파-탈라세미아(alpha-thalassemias)는 4개의 알파 대립 중 어떤 것도 삭제하지 않은 돌연변이에 기인한다고 보고되었지만, 가장 일반적으로 알파-탈라세미아(alpha-talassemias)는 4개의 알파 대립 중 하나를 삭제한 데서 기인한다.1개 또는 2개의 알레르기를 삭제하는 것은 임상적으로 조용하다.3개의 알레르기를 삭제하면 HbH 질환이 발생하여 빈혈과 간성플레노메갈리가 발생한다.4개의 알레르기를 모두 삭제하면 태아 헤모글로빈(HbF), 성인 헤모글로빈(HbA) 또는 성인 변종 헤모글로빈(HbA2)을 만들 수 없게 되고 수혈 태아 발생이 발생하기 때문에 치명적이다.[8]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000188536 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000069919 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "HBA2 gene: MedlinePlus Genetics".
- ^ Liebhaber SA, Goossens MJ, Kan YW (Dec 1980). "Cloning and complete nucleotide sequence of human 5'-alpha-globin gene". Proceedings of the National Academy of Sciences of the United States of America. 77 (12): 7054–8. Bibcode:1980PNAS...77.7054L. doi:10.1073/pnas.77.12.7054. PMC 350439. PMID 6452630.
- ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (Apr 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.
- ^ "Entrez Gene: HBA2 hemoglobin, alpha 2".
추가 읽기
- Richter F, Meurers BH, Zhu C, Medvedeva VP, Chesselet MF (Aug 2009). "Neurons express hemoglobin alpha- and beta-chains in rat and human brains". The Journal of Comparative Neurology. 515 (5): 538–47. doi:10.1002/cne.22062. PMC 3123135. PMID 19479992.
- Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL (Aug 2010). "A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))". Blood Cells, Molecules & Diseases. 45 (2): 133–5. doi:10.1016/j.bcmd.2010.05.004. PMID 20682466.
- Sessa R, Puzone S, Ammirabile M, Piscopo C, Pagano L, Colucci S, Izzo P, Grosso M (Feb 2010). "Identification and molecular characterization of the --CAMPANIA deletion, a novel alpha (0) -thalassemic defect, in two unrelated Italian families [corrected]". American Journal of Hematology. 85 (2): 143–4. doi:10.1002/ajh.21591. PMID 20054848. S2CID 26190193.
- Yin XL, Zhang XH, Zhou TH, Zhang TL, Luo RG, Wang L, Zhou YL, Chen YS, Kong XJ, Liang B, He YY, Peng L, Lu LB, Fang SP, Wu ZK (2010). "Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients". Acta Haematologica. 124 (2): 86–91. doi:10.1159/000314058. PMID 20639625. S2CID 38841342.
- Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A (2009). "Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met]". Hemoglobin. 33 (3): 196–205. doi:10.1080/03630260903058685. PMID 19657833. S2CID 26959240.
- Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker Verweij M, van Delft P, Arkesteijn SG, Phylipsen M, Giordano PC (Apr 2010). "alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene". European Journal of Haematology. 84 (4): 354–8. doi:10.1111/j.1600-0609.2009.01380.x. PMID 19912309. S2CID 20511683.
- Kapralov A, Vlasova II, Feng W, Maeda A, Walson K, Tyurin VA, Huang Z, Aneja RK, Carcillo J, Bayir H, Kagan VE (Oct 2009). "Peroxidase activity of hemoglobin-haptoglobin complexes: covalent aggregation and oxidative stress in plasma and macrophages". The Journal of Biological Chemistry. 284 (44): 30395–407. doi:10.1074/jbc.M109.045567. PMC 2781594. PMID 19740759.
- Roy P, Bhattacharya G, Banerjee D, Chandra S, Ghosh M, Choudhuri U, Das M, Dasgupta UB (2009). "Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent". Hemoglobin. 33 (6): 486–91. doi:10.3109/03630260903336164. PMID 19958194. S2CID 22370275.
- Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Critical Reviews in Biochemistry and Molecular Biology. 30 (3): 165–96. doi:10.3109/10409239509085142. PMID 7555018.
- Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (Apr 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.
- Ribeiro DM, Sonati MF (2008). "Regulation of human alpha-globin gene expression and alpha-thalassemia". Genetics and Molecular Research. 7 (4): 1045–53. doi:10.4238/vol7-4gmr472. PMID 19048483.
- Waye JS, Eng B, Dutly F, Frischknecht H (2009). "alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T)". Hemoglobin. 33 (6): 519–22. doi:10.3109/03630260903333377. PMID 19958200. S2CID 41033036.
- Coelho A, Picanço I, Seuanes F, Seixas MT, Faustino P (Aug 2010). "Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment" (PDF). Blood Cells, Molecules & Diseases. 45 (2): 147–53. doi:10.1016/j.bcmd.2010.05.010. hdl:10400.18/117. PMID 20580289.
- Sharma V, Kumar B, Kumar G, Saxena R (Oct 2009). "Alpha globin gene numbers: an important modifier of HbE/beta thalassemia". Hematology. 14 (5): 297–300. doi:10.1179/102453309X446126. PMID 19843387. S2CID 11461489.
- Turbpaiboon C, Wilairat P (2010). "Alpha-hemoglobin stabilizing protein: molecular function and clinical correlation". Frontiers in Bioscience. 15: 1–11. doi:10.2741/3601. PMID 20036801.
- Voon HP, Vadolas J (Dec 2008). "Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia". Haematologica. 93 (12): 1868–76. doi:10.3324/haematol.13490. PMID 18768527.
- Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL (2010). "Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening". Hemoglobin. 34 (4): 354–65. doi:10.3109/03630269.2010.486341. PMID 20642333. S2CID 35413104.
- Mahdavi MR, Kowsarian M, Karami H, Mohseni A, Vahidshahi K, Roshan P, Hojjati MT, Ebrahimzadeh MA (Oct 2010). "Prevalence of hemoglobin alpha-chain gene deletion in neonates in North of Iran". European Review for Medical and Pharmacological Sciences. 14 (10): 871–5. PMID 21222374.
- Balakrishnan G, Zhao X, Podstawska E, Proniewicz LM, Kincaid JR, Spiro TG (Apr 2009). "Subunit-selective interrogation of CO recombination in carbonmonoxy hemoglobin by isotope-edited time-resolved resonance Raman spectroscopy". Biochemistry. 48 (14): 3120–6. doi:10.1021/bi802190f. PMC 2722936. PMID 19245215.
- Zhu C, Yu W, Xie J, Chen L, Ding H, Shang X, Xu X (Oct 2010). "Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy". Blood Cells, Molecules & Diseases. 45 (3): 223–6. doi:10.1016/j.bcmd.2010.07.005. PMID 20691621.
외부 링크
이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.
PDB 갤러리 | |
|---|---|
|
