One of the iconic (yet enigmatic) arguments for human-­ape common ancestry has been the -­globin pseudogene (HBBP1). Evolutionists originally speculated that apparent mutations in HBBP1 were shared mutational mistakes derived from a human-­chimpanzee common ancestor. However, others noted that if the gene was indeed non-­functional, then it should have mutated markedly in the past 3 to 6 millio...

Erythroid-specific DNase 1 hypersensitive sites have been identified at the promoters of the human alpha-like genes and within the region from 4 to 40 kb upstream of the gene cluster. One of these sites, HS-40, has been shown previously to be the major regulator of tissue-specific alpha-globin gene expression. We have now examined the function of other hypersensitive sites by studying the expre...

One of the iconic (yet enigmatic) arguments for human-­ape common ancestry has been the -­globin pseudogene (HBBP1). Evolutionists originally speculated that apparent mutations in HBBP1 were shared mutational mistakes derived from a human-­chimpanzee common ancestor. However, others noted that if the gene was indeed non-­functional, then it should have mutated markedly in the past 3 to 6 millio...

We have characterized the expression of the human zeta (zeta) gene, which encodes an embryonic alpha-like globin, in transgenic mice. We find that a 777 base pair fragment spanning erythroid specific hypersensitive site II (HSII) from the distal 5. region of the human beta globin gene cluster potentiates expression of the zeta globin gene. In the absence of the HSII fragment, no zeta expression...

characterire the type of HPFH. TIIC restriction map obtaimd with d i iknnt Cnryma (Rumtll. tfindlll. EmRI. H p l . R d l l . R d ! ) in the $&-globin gene region and at the level of the 3 0 p m k overlap that deccribed in b!xk HPFH tjpc I (data IW# s b n ) . ' In Hdirary pcnistm Of faa1 -lobin ("PFH) ''dm u auociated with hetcmeneour deletions within the fl globin gene cluster. I n the last yea...

Previous studies in the mouse have shown that high levels of alpha-globin gene expression in late erythropoiesis depend on long-range, physical interactions between remote upstream regulatory elements and the globin promoters. Using quantitative chromosome conformation capture (q3C), we have now analyzed all interactions between 4 such elements lying 10 to 50 kb upstream of the human alpha clus...

Human hemoglobins, the oxygen carriers in the blood, are composed by two a-like and two b-like globin monomers. The -globin gene cluster located at 11p15.5 comprises one pseudogene and five genes whose expression undergoes two critical switches: the embryonic-to-fetal and fetal-to-adult transition. HBD encodes the d-globin chain of the minor adult hemoglobin (HbA2), which is assumed to be physi...

By sequencing regions flanking the beta-globin gene complex in mouse (Hbbc) and human (HBBC), we have shown that the beta-globin gene cluster is surrounded by a larger cluster of olfactory receptor genes (ORGs). To facilitate sequence comparisons and to investigate the regulation of ORG expression, we have mapped 5' sequences of mRNA from olfactory epithelium encoding beta-globin-proximal ORGs....

Natural deletions of the human β-globin gene cluster lead to specific syndromes characterized by increased production of fetal hemoglobin in adult life and provide a useful model to delineate novel cis-acting elements involved in the developmental control of hemoglobin switching. A hypothesis accounting for these phenotypic features, assumes that silencers located within the Aγ to δ-gene region...

Previous studies of the Hpa I cleavage site-sickle cell hemoglobin gene linkage in various African populations suggested that the sickle gene arose independently more than once. In the present study we have performed restriction endonuclease haplotype analysis for the beta-globin-like gene cluster from four separate geographic areas in Africa, all of which possess the sickle gene. In Benin (Cen...