Summary
The X-linked NFE1 gene encodes an erythroid factor involved in globin gene transcription. Using a human cDNA clone encoding this factor, we show, by in situ hybridization and by analysis of human-rodent hybrid cell lines, that this gene is located in Xp11.23. In the absence of polymorphisms in the NFE1 gene, these results allow the study of the possible relationships between NFE1 mutations and X-linked hereditary persistence of fetal hemoglobin by linkage analysis with RFLP markers of the region. A female patient, hemizygous for the NFE1 locus, shows essentially normal hematological parameters.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, Frants RR, Erikson AW, Andria G (1989) Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study of 57 unrelated patients, at DNA and protein levels. Genomics 4:36–40.
Brown CJ, Willard HF (1990) Localization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation. Am J Hum Genet 46:273–279.
Camerino G, Grzeschik K-H, Jaye M, De laSalle H, Tolstoshev P, Lecocq JP, Heiling R, Mandel JL (1984) Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci USA 81:498–502.
Gianni AM, Bregni M, Cappellini MD, Fiorelli G, Taramelli R, Giglioni B, Comi P, Ottolenghi S (1983) A gene controlling fetal hemoglobin expression in adults is not linked to the non-α globin cluster. EMBO J 2:921–925.
Mantovani R, Malgaretti N, Nicolis S, Ronchi A, Giglioni A, Giglioni B, Ottolenghi S (1988) The effects of HPFH mutation in the human γ-globin promoter on binding of ubiquitous and erythroid specific nuclear factors. Nucleic Acids Res 16:7783–7806.
Martin DIK, Tsai S-F, Orkin SH (1989) Increased γ-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. Nature 338:435–438.
Mignotte V, Eleouet JF, Raich N, Romeo PH (1989) Cis- and trans-acting elements involved in the regulation of the erythroid promoter of the human porphobilinogen deaminase gene. Proc Natl Acad Sci USA 86:6548–6552.
Miyoshi K, Kaneto Y, Kawai H, Ohchi H, Niki S, Hasegawa K, Shirakami A, Yamano T (1988) X-linked dominant control of F-cells in normal adult life: characterization of the Swiss type as hereditary persistence of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. Blood 72:1854–1860.
Nicolis S, Ronchi A, Malgaretti N, Mantovani R, Giglioni B, Ottolenghi S (1989) Increased erythroid-specific expression of a mutated HPFH γ-globin promoter requires the erythroid factor NFE-1. Nucleic Acids Res 17:5509–5516.
Oberlé I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, VanCong N, Weil D, Mandel JL (1986) Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet 72:43–49.
Ronchi A, Nicolis S, Santoro C, Ottolenghi S (1989) Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) γ-globin promoter. Nucleic Acids Res 17:10231–10241.
Stamatoyannopoulos G, Nienhuis AW (1987) Hemoglobin switching. In: Stamatoyannopoulos G, Nienhuis AW, Leder P, Majerus PW (eds) The molecular basis of blood diseases. Saunders, Philadelphia, pp 66–105.
Thein SL, Weatherall DJ (1989) A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the γ-globin gene complex. In: Stamatoyannopulos G, Nienhuis AW (eds) Hemoglobin switching, part B: Cellular and molecular mechanisms. Liss, New York, pp 97–111.
Trainor CD, Evans T, Felsenfeld G, Boguski MS (1990) Structure and evolution of a human erythroid transcription factor. Nature 343:92–96.
Zon LI, Tsai S-F, Burgess S, Matsudaira P, Bruns GAP, Orkin SH (1990) The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. Proc Natl Acad Sci USA 87:668–672.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Caiulo, A., Nicolis, S., Bianchi, P. et al. Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23. Hum Genet 86, 388–390 (1991). https://doi.org/10.1007/BF00201840
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00201840