Gene Review:
HBFQTL2 - hereditary persistence of fetal hemoglobin...
Homo sapiens
Synonyms:
FCP, HPFH
- Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. Garner, C., Mitchell, J., Hatzis, T., Reittie, J., Farrall, M., Thein, S.L. Am. J. Hum. Genet. (1998)
- Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. Calzolari, R., McMorrow, T., Yannoutsos, N., Langeveld, A., Grosveld, F. EMBO J. (1999)
- The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene. Superti-Furga, G., Barberis, A., Schaffner, G., Busslinger, M. EMBO J. (1988)
- A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. Giglioni, B., Casini, C., Mantovani, R., Merli, S., Comi, P., Ottolenghi, S., Saglio, G., Camaschella, C., Mazza, U. EMBO J. (1984)
- A G gamma type of the hereditary persistence of fetal hemoglobin with beta chain production in cis. Huisman, T.H., Miller, A., Schroeder, W.A. Am. J. Hum. Genet. (1975)
- Delta-beta-thalassemia is due to a gene deletion. Ottolenghi, S., Comi, P., Giglioni, B., Tolstoshev, P., Lanyon, W.G., Mitchell, G.J., Williamson, R., Russo, G., Musumeci, S., Schillro, G., Tsistrakis, G.A., Charache, S., Wood, W.G., Clegg, J.B., Weatherall, D.J. Cell (1976)
- A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. Berry, M., Grosveld, F., Dillon, N. Nature (1992)
- Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. Martin, D.I., Tsai, S.F., Orkin, S.H. Nature (1989)
- Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters. Gumucio, D.L., Rood, K.L., Blanchard-McQuate, K.L., Gray, T.A., Saulino, A., Collins, F.S. Blood (1991)
- Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. Katsantoni, E.Z., Langeveld, A., Wai, A.W., Drabek, D., Grosveld, F., Anagnou, N.P., Strouboulis, J. Blood (2003)
- A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Collins, F.S., Metherall, J.E., Yamakawa, M., Pan, J., Weissman, S.M., Forget, B.G. Nature (1985)
- A haemoglobin switching activity modulates hereditary persistence of fetal haemoglobin. Papayannopoulou, T., Tatsis, B., Kurachi, S., Nakamoto, B., Stamatoyannopoulos, G. Nature (1984)
- The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Ottolenghi, S., Giglioni, B. Nature (1982)
- G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene. Collins, F.S., Stoeckert, C.J., Serjeant, G.R., Forget, B.G., Weissman, S.M. Proc. Natl. Acad. Sci. U.S.A. (1984)
- Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. Weinberg, R.S., Antonarakis, S.E., Kazazian, H.H., Dover, G.J., Orkin, S.H., Lenes, A.L., Schofield, J.M., Alter, B.P. Blood (1984)
- A region upstream of the human delta-globin gene shows a stage-specific interaction with globin promoters in erythroid cell lines. Vitale, M., Calzolari, R., Di Marzo, R., Acuto, S., Maggio, A. Blood Cells Mol. Dis. (2001)
- Function of transfected globin promoters and the globin locus activator in K562 erythroleukemia cells. Ulrich, M.J., Moon, A.M., Ley, T.J. Ann. N. Y. Acad. Sci. (1990)
- Expression of human globin genes in transgenic mice carrying the beta-globin gene cluster with a mutation causing G gamma beta + hereditary persistence of fetal hemoglobin. Tanaka, M., Nolan, J.A., Bhargava, A.K., Rood, K., Collins, F.S., Weissman, S.M., Forget, B.G., Chamberlain, J.W. Ann. N. Y. Acad. Sci. (1990)
- Beta-N-terminal glycohemoglobins in subjects with common hemoglobinopathies: relation with fructosamine and mean erythrocyte age. Martina, W.V., Martijn, E.G., van der Molen, M., Schermer, J.G., Muskiet, F.A. Clin. Chem. (1993)
- Occurrence of G gamma Hb F in Greek HPFH: analysis of heterozygotes and compound heterozygotes with beta thalassaemia. Clegg, J.B., Metaxatou-Mavromati, A., Kattamis, C., Sofroniadou, K., Wood, W.G., Weatherall, D.J. Br. J. Haematol. (1979)
- The deletion of the distal CCAAT box region of the A gamma-globin gene in black HPFH abolishes the binding of the erythroid specific protein NFE3 and of the CCAAT displacement protein. Mantovani, R., Superti-Furga, G., Gilman, J., Ottolenghi, S. Nucleic Acids Res. (1989)
- Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH). Bernards, R., Flavell, R.A. Nucleic Acids Res. (1980)
- Use of yeast artificial chromosomes (YACs) in studies of mammalian development: production of beta-globin locus YAC mice carrying human globin developmental mutants. Peterson, K.R., Li, Q.L., Clegg, C.H., Furukawa, T., Navas, P.A., Norton, E.J., Kimbrough, T.G., Stamatoyannopoulos, G. Proc. Natl. Acad. Sci. U.S.A. (1995)
- Functional erythroid promoters created by interaction of the transcription factor GATA-1 with CACCC and AP-1/NFE-2 elements. Walters, M., Martin, D.I. Proc. Natl. Acad. Sci. U.S.A. (1992)
- A human protein containing a "cold shock" domain binds specifically to H-DNA upstream from the human gamma-globin genes. Horwitz, E.M., Maloney, K.A., Ley, T.J. J. Biol. Chem. (1994)
- Interferon-gamma modulates fetal hemoglobin synthesis in sickle cell anemia and thalassemia. Miller, B.A., Olivieri, N., Hope, S.M., Faller, D.V., Perrine, S.P. J. Interferon Res. (1990)
- Juxtaposition of the HPFH2 enhancer is not sufficient to reactivate the gamma-globin gene in adult erythropoiesis. Xiang, P., Han, H., Barkess, G., Olave, I., Fang, X., Yin, W., Stamatoyannopoulos, G., Li, Q. Hum. Mol. Genet. (2005)
- Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression. Ragusa, A., Lombardo, M., Bouhassira, E., Beldjord, C., Lombardo, T., Nagel, R.L., Labie, D., Krishnamoorthy, R. Am. J. Hum. Genet. (1989)
- Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant. Farquhar, M., Gelinas, R., Tatsis, B., Murray, J., Yagi, M., Mueller, R., Stamatoyannopoulos, G. Am. J. Hum. Genet. (1983)
- Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Tuan, D., Feingold, E., Newman, M., Weissman, S.M., Forget, B.G. Proc. Natl. Acad. Sci. U.S.A. (1983)
- Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction. Vives-Corrons, J.L., Pujades, M.A., Miguel-García, A., Miguel-Sosa, A., Cambiazzo, S. Blood (1992)
- Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin. Gelinas, R.E., Rixon, M., Magis, W., Stamatoyannopoulos, G. Blood (1988)