메뉴 건너뛰기




Volumn 31, Issue 2, 2003, Pages 234-239

Short insertion in a hemoglobin chain: Hb Esch, an unstable α1 variant with duplication of the sequence Ala65-Leu-Thr-Asn 68

Author keywords

Alpha globin; Hemoglobin variant; Insertion; Instability; Oxygen affinity; Slipped mispairing; Subunit association

Indexed keywords

ALANINE; ANTIGEN; ASPARAGINE; CD65 ANTIGEN; CD68 ANTIGEN; GLYCOSYLATED HEMOGLOBIN; HEMOGLOBIN; HEMOGLOBIN CHAIN; HEMOGLOBIN VARIANT; LEUCINE; THREONINE; UNCLASSIFIED DRUG; DNA; LIGAND; NUCLEOTIDE;

EID: 10744222796     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1079-9796(03)00131-1     Document Type: Article
Times cited : (12)

References (22)
  • 2
    • 0036190154 scopus 로고    scopus 로고
    • Hardison, R.C., Chui, D.H., Giardine, B., Riemer, C., Patrinos, G.P., Anagnou, N., Miller, W., Wajcman, H., Hb Var A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server, Hum. Mutat. 19 (2002) 225-233
    • Hardison, R.C., Chui, D.H., Giardine, B., Riemer, C., Patrinos, G.P., Anagnou, N., Miller, W., Wajcman, H., Hb Var A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server, Hum. Mutat. 19 (2002) 225-233 ( http://globin.cse.psu.edu ).
  • 3
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
    • Krawczak M., Cooper D.N. Gene deletions causing human genetic disease mechanisms of mutagenesis and the role of the local DNA sequence environment . Hum. Genet. 86:1991;425-441.
    • (1991) Hum. Genet. , vol.86 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 4
    • 0025744705 scopus 로고
    • Mechanism of insertional mutagenesis in human genes causing genetic disease
    • Cooper D.N., Krawczak M. Mechanism of insertional mutagenesis in human genes causing genetic disease. Hum Genet. 87:1991;409-415.
    • (1991) Hum Genet. , vol.87 , pp. 409-415
    • Cooper, D.N.1    Krawczak, M.2
  • 5
    • 0030996733 scopus 로고    scopus 로고
    • A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human α2-globin gene
    • Oron-Karni V., Filon D., Rund D., Oppenheim A. A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human α2-globin gene. Hum. Mol. Genet. 6:1997;881-885.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 881-885
    • Oron-Karni, V.1    Filon, D.2    Rund, D.3    Oppenheim, A.4
  • 6
    • 0023256559 scopus 로고
    • Slipped-strand mispairing: A major mechanism for DNA sequence evolution
    • Levinson G., Gutman G.A. Slipped-strand mispairing a major mechanism for DNA sequence evolution . Mol. Biol. Evol. 4:1987;203-221.
    • (1987) Mol. Biol. Evol. , vol.4 , pp. 203-221
    • Levinson, G.1    Gutman, G.A.2
  • 8
    • 0042534187 scopus 로고    scopus 로고
    • Globin chain analysis by RP-HPLC: Recent developments
    • Wajcman H., Riou J., Yapo A.P. Globin chain analysis by RP-HPLC recent developments . Hemoglobin. 26:2002;281-294.
    • (2002) Hemoglobin , vol.26 , pp. 281-294
    • Wajcman, H.1    Riou, J.2    Yapo, A.P.3
  • 10
  • 11
  • 12
    • 0033740265 scopus 로고    scopus 로고
    • Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb Heraklion, alpha1cd37(C2)Pro>0): Comparison to other alpha-thalassemic hemoglobinopathies
    • Traeger-Synodinos J., Papassotiriou I., Metaxotou-Mavrommati A., Vrettou C., Stamoulakatou A., Kanavakis E. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb Heraklion, alpha1cd37(C2)Pro>0) comparison to other alpha-thalassemic hemoglobinopathies . Blood Cells Mol. Dis. 26:2000;276-284.
    • (2000) Blood Cells Mol. Dis. , vol.26 , pp. 276-284
    • Traeger-Synodinos, J.1    Papassotiriou, I.2    Metaxotou-Mavrommati, A.3    Vrettou, C.4    Stamoulakatou, A.5    Kanavakis, E.6
  • 14
    • 0041532260 scopus 로고    scopus 로고
    • Hemoglobin Phnom Penh [α117Phe(H1)-Ile- α118Thr(H2)]: Evidence for a hotspot for insertion of residues in the third exon of the α-globin gene
    • Online
    • Wajcman H., Préhu M.O., Préhu C., Blouquit Y., Promé D., Galactéros F. Hemoglobin Phnom Penh [α 117Phe(H1)-Ile- α118Thr(H2)] evidence for a hotspot for insertion of residues in the third exon of the α-globin gene . Hum. Mutat. 1:(Suppl.):1997;S20-2. Online.
    • (1997) Hum. Mutat. , vol.1 , Issue.SUPPL. , pp. 20-22
    • Wajcman, H.1    Préhu, M.O.2    Préhu, C.3    Blouquit, Y.4    Promé, D.5    Galactéros, F.6
  • 15
    • 0016272747 scopus 로고
    • Hemoglobin Grady: The first example of a variant with elongated chains due to an insertion of residues
    • Huisman T.H., Wilson J.B., Gravely M., Hubbard M. Hemoglobin Grady the first example of a variant with elongated chains due to an insertion of residues . Proc. Natl. Acad. Sci. USA. 71:1974;3270-3273.
    • (1974) Proc. Natl. Acad. Sci. USA , vol.71 , pp. 3270-3273
    • Huisman, T.H.1    Wilson, J.B.2    Gravely, M.3    Hubbard, M.4
  • 16
    • 0026786423 scopus 로고
    • Two new human hemoglobin variants due to rare mutational events: Hb Zaïre that contains a five residue repetition within the α-chain and Hb Duino that has two residues substituted in the β-chain
    • Wajcman H., Blouquit Y., Vasseur C., LeQuerrec A., Laniece M., Melevendi M., Rasore A., Galacteros F. Two new human hemoglobin variants due to rare mutational events Hb Zaïre that contains a five residue repetition within the α-chain and Hb Duino that has two residues substituted in the β-chain . Hum. Genet. 89:1992;676-680.
    • (1992) Hum. Genet. , vol.89 , pp. 676-680
    • Wajcman, H.1    Blouquit, Y.2    Vasseur, C.3    LeQuerrec, A.4    Laniece, M.5    Melevendi, M.6    Rasore, A.7    Galacteros, F.8
  • 17
    • 0029757377 scopus 로고    scopus 로고
    • Haemoglobin Lleida: A new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype
    • Ayala S., Colomer D., Pujades A., Aymerich M., Vives Corrons J.L. Haemoglobin Lleida a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype . Br. J. Haematol. 94:1996;639-644.
    • (1996) Br. J. Haematol. , vol.94 , pp. 639-644
    • Ayala, S.1    Colomer, D.2    Pujades, A.3    Aymerich, M.4    Vives Corrons, J.L.5
  • 18
    • 0034559584 scopus 로고    scopus 로고
    • Hb Neuilly-sur-Marne a new human hemoglobin variant with Ser-Asp- Leu inserted between α86(F7)Leu and α87(F8)His: Characterization by high energy collision- induced dissociation liquid secondary ion mass spectrometry and low energy collision-induced dissociation tandem mass spectrometry in a ion trap fitted with a nanospray ionization source
    • Promé D., Promé J.C., Wajcman H., Riou J., Galactéros F., Carte N., Leize E., Vandorsselaer A. Hb Neuilly-sur-Marne a new human hemoglobin variant with Ser-Asp- Leu inserted between α86(F7)Leu and α87(F8)His characterization by high energy collision- induced dissociation liquid secondary ion mass spectrometry and low energy collision-induced dissociation tandem mass spectrometry in a ion trap fitted with a nanospray ionization source . Eur. Mass Spectrom. 6:2000;205-211.
    • (2000) Eur. Mass Spectrom. , vol.6 , pp. 205-211
    • Promé, D.1    Promé, J.C.2    Wajcman, H.3    Riou, J.4    Galactéros, F.5    Carte, N.6    Leize, E.7    Vandorsselaer, A.8
  • 20
    • 0032241309 scopus 로고    scopus 로고
    • Alpha- thalassaemia due to a single codon deletion in the alphal-globin gene. Computational structural analysis of the new alpha-chain variant
    • Mutations in brief No. 132. Online
    • Ayala S., Colomer D., Gelpi J.L., Vives Corrons J.L. Alpha- thalassaemia due to a single codon deletion in the alphal-globin gene. Computational structural analysis of the new alpha-chain variant. Hum. Mutat. 11:1998;412. Mutations in brief No. 132. Online.
    • (1998) Hum. Mutat. , vol.11 , pp. 412
    • Ayala, S.1    Colomer, D.2    Gelpi, J.L.3    Vives Corrons, J.L.4
  • 21
    • 0035543925 scopus 로고    scopus 로고
    • Hb Dartmouth [alpha 66(E15)Leu→Pro (alpha2) (CTG→CCG)]: A novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1
    • McBride K.L., Snow K., Kubik K.S., Fairbanks V.F., Hoyer J.D., Fairweather R.B., Chaffee S., Edwards W.H. Hb Dartmouth [alpha 66(E15)Leu→Pro (alpha2) (CTG→CCG)] a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1 . Hemoglobin. 25:2001;375-382.
    • (2001) Hemoglobin , vol.25 , pp. 375-382
    • McBride, K.L.1    Snow, K.2    Kubik, K.S.3    Fairbanks, V.F.4    Hoyer, J.D.5    Fairweather, R.B.6    Chaffee, S.7    Edwards, W.H.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.