HGNC Approved Gene Symbol:HBQ1
Cytogenetic location:16p13.3 Genomic coordinates(GRCh38) :16:180,459-181,179 (from NCBI)
Studying the orangutan,Marks et al. (1986) discovered a 'new' functional globin gene in the alpha cluster (16p13.33-p13.11). The orangutan gene, called theta-1, has all the sequence elements necessary for an expressible, protein-coding gene. The putative polypeptide for which it codes contains 141 amino acids, identical to the alpha and zeta globins. It differs from orangutan alpha globin (by 55 aa) as much as human alpha and zeta differ (by 59 aa), suggesting an ancient origin of the theta-1 gene.
Marks et al. (1986) cloned the theta-1 gene in man and found map arrangements similar to those in orangutan and baboon. It encoded a putative protein of 141 amino acids.
Peschle et al. (1985) found as yet uncharacterized globin polypeptides in early stages of human embryo development. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks.
Clegg (1987) concluded that the predicted amino acid sequence of the theta-1 gene suggests that any 'globin' product is likely to be nonviable because of seriously deleterious amino acid replacements. Some of these amino acid changes are shared by horse, rabbit, and primate, indicating that they predate the mammalian radiation, and that if indeed any of these genes are still functional, they are unlikely to be making hemoglobin.Leung et al. (1987), however, demonstrated theta-globin messenger RNA in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue; furthermore, they could detect theta-globin mRNA in significant amounts in a human erythroleukemic cell line.
Hsu et al. (1988) presented the complete DNA sequence of a cloned theta-1 gene of man and showed that it contained no apparent defects that would abolish its expression.Hsu et al. (1988) also showed that the theta-1 gene was transcribed in an erythroleukemia cell line. The findings supported a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue.
Leung et al. (1987) found that the promoter sequence of theta-globin did not correspond to the CCAAT and ATA box sequences of the alpha-globin gene, but rather was found to lie in the adjacent GC-rich sequence. This type of promoter is reminiscent of that found in housekeeping genes such as ADA (608958) and HPRT (308000).
Hsu et al. (1988) reported that both alpha-1 and theta-1 genes are split into 3 exons with the potential to code for a 141-amino acid polypeptide.
Utsch et al. (2001) diagrammed the position of the globin genes on chromosome 16p as follows: 5-prime-zeta--pseudo-zeta--pseudo-alpha--alpha-1--alpha-2--theta-1-3-prime.
Utsch et al. (2001) cited unpublished evidence that a theta-2 locus is on chromosome 10.
Fei et al. (1988) described 2 different theta-1 globin gene deletions in the black population of the southeastern U.S. No hematologic alterations were associated.
Clegg, J. B.Can the product of the theta gene be a real globin? Nature 329: 465-466, 1987. [PubMed:3657962,related citations] [Full Text]
Fei, Y. J., Fujita, S., Huisman, T. H. J.Two different theta globin gene deletions observed among black newborn babies. Brit. J. Haemat. 68: 249-253, 1988. [PubMed:3348979,related citations] [Full Text]
Hsu, S.-L., Marks, J., Shaw, J.-P., Tam, M., Higgs, D. R., Shen, C. C., Shen, C.-K. J.Structure and expression of the human theta-1 globin gene. Nature 331: 94-96, 1988. [PubMed:3422341,related citations] [Full Text]
Leung, S., Proudfoot, N. J., Whitelaw, E.The gene for theta-globin is transcribed in human fetal erythroid tissues. Nature 329: 551-554, 1987. [PubMed:3657976,related citations] [Full Text]
Marks, J., Shaw, J.-P., Perez-Stabile, C., Hu, W.-S., Ayres, T. M., Shen, C., Shen, C.-K. J.The primate alpha-globin gene family: a paradigm of the fluid genome. Cold Spring Harbor Symp. Quant. Biol. 51: 499-508, 1986. [PubMed:2884069,related citations] [Full Text]
Marks, J., Shaw, J.-P., Shen, C.-K. J.Sequence organization and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like gene. Nature 321: 785-788, 1986. [PubMed:3012370,related citations] [Full Text]
Peschle, C., Mavilio, F., Care, A., Migliaccio, G., Migliaccio, A. R., Salvo, G., Samoggia, P., Petti, S., Guerriero, R., Marinucci, M., Lazzaro, D., Russo, G., Mastroberardino, G.Haemoglobin switching in human embryos: asynchrony of zeta-to-alpha- and epsilon-to-gamma-globin switches in primitive and definitive erythropoietic lineage. Nature 313: 235-238, 1985. [PubMed:2578614,related citations] [Full Text]
Utsch, B., Albers, N., Dame, C., Bartmann, P., Lentze, M. J., Ludwig, M.Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the theta-1-globin gene on 16p13.3 is compensated by its duplicate theta-2 on chromosome 10. (Letter) Am. J. Med. Genet. 101: 286-287, 2001. [PubMed:11424149,related citations] [Full Text]
HGNC Approved Gene Symbol: HBQ1
Cytogenetic location: 16p13.3 Genomic coordinates(GRCh38) : 16:180,459-181,179(from NCBI)
Studying the orangutan, Marks et al. (1986) discovered a 'new' functional globin gene in the alpha cluster (16p13.33-p13.11). The orangutan gene, called theta-1, has all the sequence elements necessary for an expressible, protein-coding gene. The putative polypeptide for which it codes contains 141 amino acids, identical to the alpha and zeta globins. It differs from orangutan alpha globin (by 55 aa) as much as human alpha and zeta differ (by 59 aa), suggesting an ancient origin of the theta-1 gene.
Marks et al. (1986) cloned the theta-1 gene in man and found map arrangements similar to those in orangutan and baboon. It encoded a putative protein of 141 amino acids.
Peschle et al. (1985) found as yet uncharacterized globin polypeptides in early stages of human embryo development. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks.
Clegg (1987) concluded that the predicted amino acid sequence of the theta-1 gene suggests that any 'globin' product is likely to be nonviable because of seriously deleterious amino acid replacements. Some of these amino acid changes are shared by horse, rabbit, and primate, indicating that they predate the mammalian radiation, and that if indeed any of these genes are still functional, they are unlikely to be making hemoglobin. Leung et al. (1987), however, demonstrated theta-globin messenger RNA in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue; furthermore, they could detect theta-globin mRNA in significant amounts in a human erythroleukemic cell line.
Hsu et al. (1988) presented the complete DNA sequence of a cloned theta-1 gene of man and showed that it contained no apparent defects that would abolish its expression. Hsu et al. (1988) also showed that the theta-1 gene was transcribed in an erythroleukemia cell line. The findings supported a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue.
Leung et al. (1987) found that the promoter sequence of theta-globin did not correspond to the CCAAT and ATA box sequences of the alpha-globin gene, but rather was found to lie in the adjacent GC-rich sequence. This type of promoter is reminiscent of that found in housekeeping genes such as ADA (608958) and HPRT (308000).
Hsu et al. (1988) reported that both alpha-1 and theta-1 genes are split into 3 exons with the potential to code for a 141-amino acid polypeptide.
Utsch et al. (2001) diagrammed the position of the globin genes on chromosome 16p as follows: 5-prime-zeta--pseudo-zeta--pseudo-alpha--alpha-1--alpha-2--theta-1-3-prime.
Utsch et al. (2001) cited unpublished evidence that a theta-2 locus is on chromosome 10.
Fei et al. (1988) described 2 different theta-1 globin gene deletions in the black population of the southeastern U.S. No hematologic alterations were associated.
Clegg, J. B.Can the product of the theta gene be a real globin? Nature 329: 465-466, 1987. [PubMed: 3657962] [Full Text: https://doi.org/10.1038/329465a0]
Fei, Y. J., Fujita, S., Huisman, T. H. J.Two different theta globin gene deletions observed among black newborn babies. Brit. J. Haemat. 68: 249-253, 1988. [PubMed: 3348979] [Full Text: https://doi.org/10.1111/j.1365-2141.1988.tb06197.x]
Hsu, S.-L., Marks, J., Shaw, J.-P., Tam, M., Higgs, D. R., Shen, C. C., Shen, C.-K. J.Structure and expression of the human theta-1 globin gene. Nature 331: 94-96, 1988. [PubMed: 3422341] [Full Text: https://doi.org/10.1038/331094a0]
Leung, S., Proudfoot, N. J., Whitelaw, E.The gene for theta-globin is transcribed in human fetal erythroid tissues. Nature 329: 551-554, 1987. [PubMed: 3657976] [Full Text: https://doi.org/10.1038/329551a0]
Marks, J., Shaw, J.-P., Perez-Stabile, C., Hu, W.-S., Ayres, T. M., Shen, C., Shen, C.-K. J.The primate alpha-globin gene family: a paradigm of the fluid genome. Cold Spring Harbor Symp. Quant. Biol. 51: 499-508, 1986. [PubMed: 2884069] [Full Text: https://doi.org/10.1101/sqb.1986.051.01.061]
Marks, J., Shaw, J.-P., Shen, C.-K. J.Sequence organization and genomic complexity of primary theta-1 globin gene, a novel alpha-globin-like gene. Nature 321: 785-788, 1986. [PubMed: 3012370] [Full Text: https://doi.org/10.1038/321785a0]
Peschle, C., Mavilio, F., Care, A., Migliaccio, G., Migliaccio, A. R., Salvo, G., Samoggia, P., Petti, S., Guerriero, R., Marinucci, M., Lazzaro, D., Russo, G., Mastroberardino, G.Haemoglobin switching in human embryos: asynchrony of zeta-to-alpha- and epsilon-to-gamma-globin switches in primitive and definitive erythropoietic lineage. Nature 313: 235-238, 1985. [PubMed: 2578614] [Full Text: https://doi.org/10.1038/313235a0]
Utsch, B., Albers, N., Dame, C., Bartmann, P., Lentze, M. J., Ludwig, M.Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the theta-1-globin gene on 16p13.3 is compensated by its duplicate theta-2 on chromosome 10. (Letter) Am. J. Med. Genet. 101: 286-287, 2001. [PubMed: 11424149] [Full Text: https://doi.org/10.1002/ajmg.1344]
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