Subtyping of alkylated human orosomucoid: Evidence for a duplicated gene, ORM1*F2S

Rocha, Jorge; Amorim, António; Luckenbach, C.; Kömpf, J.; Ritter, H.

doi:10.1002/elps.1150140138

Cited by 6 publications

(5 citation statements)

References 12 publications

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“…These results were consistent with a similarity in behavior between the variant and ORM1 F2 bands by three different techniques of isoelectric focusing. The shift in isoelectric point of the ORM1 S2(C) band was observed after treatment with iodoacetamide, just like ORM1 F2 and ORM2 M, because the alkylation of a methionine residue produces a positively charged derivative (Rocha et al 1993).…”

Section: Discussionmentioning

confidence: 91%

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Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

et al. 2001

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In this study, the structure of the α 1 -acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed:(1) The two ORM1 alleles, ORM1*S and ORM1*S2(C), had the AGP2 gene-specific sequence at one and three regions, respectively, in exon 5 to intron 5. The variant allele originating from ORM1*S was characterized by a G-to-A transition, resulting in an amino acid change from valine to methionine, which is also detected in ORM1 F2, a form that is common in Europeans. (2) The AGP2 gene of the child, inherited from the father, was duplicated, as revealed by long-range polymerase chain reaction. (3) Three new mutations were observed in two exons of the AGP2 genes of the mother and child. All of these novel genomic rearrangements, which were not observed in Japanese subjects, may have arisen through point mutation, gene conversion, and unequal crossover events. It is likely that the rearrangement of the AGP gene has often occurred in Africans.

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Section: Discussionmentioning

confidence: 91%

“…In Method C, desialylated samples were alkylated with iodoacetamide and subjected to isoelectric focusing in the presence of 8M urea. The banding patterns were visualized by immunoprinting and immunoblotting (Yuasa et al 1993;Rocha et al 1993;Dülmer et al 1998). …”

Section: Isoelectric Focusing and Immunodetectionmentioning

confidence: 99%

Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

et al. 2001

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“…Studies by Southern Blot analysis of DNA from Europeans and Australians suggest that the increase in gene number occurs at appreciable frequencies (Dente et al, 1987;Owczarek et al, 2002). A duplicated ORM1 gene, ORM1 * F2•S was identified in a German family (Rocha et al, 1993). Further studies of human populations including Caucasians would help to clarify the molecular evolution of the ORM gene cluster.…”

Section: Discussionmentioning

confidence: 94%

The Structure and Diversity of α1-Acid Glycoprotein/Orosomucoid Gene in Africans

et al. 2006

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Human orosomucoid (ORM), or alpha(1)-acid glycoprotein, is known to be controlled by duplicated and triplicated genes on chromosome 9, encoding ORM1 and ORM2 proteins. In this study, the structure and diversity of the ORM gene were investigated in 16 Sub-Saharan Africans, who originated from widely dispersed locations in Africa. The duplicated ORM1-ORM2 gene was observed in all 16 samples. ORM1*S1(2), characterized by an ORM2 gene-specific sequence in intron 5, was common in Africans. Three Africans showed the duplication of the ORM1 gene. The organization of the triplicated ORM1A-ORM1B-ORM2 gene was established in two Africans. The recombination breakpoints resulting in the ORM1 duplication lay within a small genomic interval around exon 1 of the ORM1B gene. The duplication of the ORM2 gene reported previously was not detected in this population sample. Several single-nucleotide polymorphisms were observed in the ORM2 gene. The rearrangement of the ORM gene is likely to occur often in Africans.

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“…The frequencies of duplicated or triplicate genes encoding ORM1 and ORM2 proteins, together with the appearance of different gene arrangements, may distinguish some populations, in terms of their ORM diversity (Nakamura et al, 2000;Owczarek et al, 2002;Yuasa et al, 2006). For example, the duplication of ORM1 gene is frequent in Africans and Japanese (high as 10-20%) (Nakamura et al, 2000;Yuasa et al, 2006), and other studies dealing with European and Australian populations suggest that the increase in gene numbers may occur at appreciable frequencies (Dente et al, 1987;Rocha et al, 1993;Owczarek et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico

García-Ortiz

Vargas‐Alarcón²,

Jm³

et al. 2008

Genet. Mol. Res.

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ABSTRACT. The human orosomucoid 1 gene (ORM1) codes an alpha-1-acid glycoprotein that has been classified as an acute-phase reactive protein, and a major drug-binding serum component, as well as an immunomodulatory protein with genetic polymorphisms. Evaluation of ORM variation through isoelectric focusing and immunobloting has revealed a world-wide distribution of the ORM1 F and ORM1 S alleles. We evaluated and examined the genetic characteristics of two Mexican populations that have different anthropo- logical and cultural antecedents, examining two ORM1 genotypes (exon 1 -A/G (Gln20Arg) and exon 5 G/A (Val156Met)) in 145 individuals, using nested polymerase chain reaction, sequencing, and restrited fragment length polymorphism. Mexican Mestizos had higher frequencies of the exon 1 A allele (P = 0.020) and AA genotype (P = 0.018) and lower frequency of the G allele (P = 0.020) when compared to Teenek Amerindians. When we examined exon 5 G/A (Val156Met) polymorphisms, we found significantly higher frequencies of the G allele (P = 0.0007) and the GG genotype (P = 0.0003) in the Mexican Mestizo population. The Teenek population had a significantly higher frequency of the A allele than has been reported for Chinese and African (P < 0.05) populations, and the G/A genotype was more frequently found in this Mexican population than in Chinese, African and European populations (P < 0.05).

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Subtyping of alkylated human orosomucoid: Evidence for a duplicated gene, ORM1*F2S

Cited by 6 publications

References 12 publications

Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians

The Structure and Diversity of α1-Acid Glycoprotein/Orosomucoid Gene in Africans

A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico

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