Anomaly in the γ chain heterogeneity of the newborn

Huisman, T. H. J.; Schroeder, W. A.; Felice, Alex E.; Powars, Darleen R.; Ringelhann, B

doi:10.1038/265063a0

Cited by 34 publications

(15 citation statements)

References 11 publications

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“…This conclusion is given support by the fact that none ofthe samples of Hb-F that has exclusively Gy_chains also has Ty_chains. It is also supported by the cord-blood data because the value of 31% Ty-chain in the four presumed homozygotes correlates well with the 29% A y-chain found in newborn babies (5). Furthermore, the data listed in Table VI show that in this baby, who is positive for the Ty-chain and heterozygous for the Gy-HPFH condition, the production of both the Ay-chain and the Ty-chain decreases simultaneously and to the same extent.…”

Section: Resultssupporting

confidence: 69%

Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.

Schroeder¹,

Huisman²,

Ефремов³

et al. 1979

J. Clin. Invest.

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Section: Resultssupporting

confidence: 69%

Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.

Schroeder¹,

Huisman²,

Ефремов³

et al. 1979

J. Clin. Invest.

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“…However, an additional genetic circumstance could account for the observed distribution of isoforms. That is, there may be nonallelic genes governing the synthesis of the C-I12 isoform of this apolipoprotein, analogous to those for the -y-chains of fetal hemo- globin (19,20). These additional genes, which code for proteins differing from the principal gene product by a single-point substitution, contribute increased amounts of y-chain in the face of anemia.…”

Section: Discussionmentioning

confidence: 99%

A variant primary structure of apolipoprotein C-II in individuals of African descent.

Menzel¹,

Kane²,

Malloy³

et al. 1986

J. Clin. Invest.

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We have isolated an isoform of the protein activator of lipoprotein lipase, apolipoprotein C-II, from the very low density lipoproteins of four patients of African ancestry with hypertriglyceridemia and eruptive or pedunculated xanthomata. This protein, which we designate apolipoprotein C-Il2, differs from the previously recognized species, which we denote apolipoprotein C-III, by substitution of glutamine for lysine at residue 55, a mutation which would require only a single-base substitution in the structural gene for apolipoprotein C-Il1. Each of the patients in whom apolipoprotein C-I12 was found had approximately equal amounts of apolipoprotein C-III and apolipoprotein C-I12 among the apoproteins of the very low density lipoproteins, suggesting that the structural genes for these proteins are allelic. Two additional apparent heterozygotes were found among the first-degree relatives of each of two of the patients in patterns compatible with monogenic autosomal transmission.Approximately equal amounts of apolipoproteins C-II2 and C-I1I were also found by isoelectric focusing in 6 of a casual series of 50 normolipidemic blacks, but none or only trace amounts of apolipoprotein C-II2 were found in 500 samples from Caucasian subjects with hyperlipidemia. These findings suggest that this polymorphism is distributed primarily among blacks, possibly reflecting some positive Darwinian selection pressure. Whether this polymorphism has a modifying effect upon the development of hyperlipemia remains to be determined.

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“…The partially purified Ep, virtually free of both activity-stimulating myeloid-macrophage colonies and inhibitor(s) of erythroid colony formation, was employed as the stimulus for BFU-E. It must be further emphasized that endotoxin was virtually absent in this Ep preparation [i.e., the Limulus assay (21) (25 ,gg/ml), L-asparagine-H20 (50 ,g/ml), L-aspartic acid (30 ,ug/ml), L-cysteine (70,ug/ml), L-glutamic acid (75 ,ug/ml), L-proline (40 gg/ml), sodium pyruvate (110 jig/ml), vitamin B12 (0.025 ,ug/ml), biotin (0.03 ,ug/ml), and Hepes buffer (2.5%) (1 M, GIBCO).…”

Section: Methodsmentioning

confidence: 99%

Globin chain synthesis in single erythroid bursts from cord blood: studies on gamma leads to beta and G gamma leads to A gamma switches.

Comi¹,

Giglioni²,

Ottolenghi³

et al. 1980

Proc. Natl. Acad. Sci. U.S.A.

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Erythoid bursts from cord or adult blood were grown in methylcellulose cultures (3 international units of erythropoietin per plate). On day 13, single bursts were picked up and reincubated for 16-24 hr with [3H]leucine. Radioactive globin chains [a, y, G7, and A7 (Ala-136)] were analyzed by either isoelectric focusin on lyacrylamide gels and fluorography or carboxymethylcellulose chromatography. In all cases, a to non-a globin radioactivity ratios were close to 1. In single cord blood bursts, the values of both -y-to-f and G--to-Ay ratios were spread over a large spectrum and further characterized by a continuous rather than a bimodal distribution. Moreover, the G74-toAy ratios demonstrated in single bursts appeared to be directly correlated with the respective y-to-ft ratios. These data suggest that both the -,B and the Gy _. A switches are mediated via mechanisms modulating the relative activities of the different genes in the non-a globin gene cluster rather than via selection of clones committed to the preferential synthesis of P and Ay globins. In contrast with the results obtained with cord blood, individual adult blood bursts synthesize a lower and hence relatively more uniform amount of y globin chains.

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Anomaly in the γ chain heterogeneity of the newborn

Cited by 34 publications

References 11 publications

Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.

Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin.

A variant primary structure of apolipoprotein C-II in individuals of African descent.

Globin chain synthesis in single erythroid bursts from cord blood: studies on gamma leads to beta and G gamma leads to A gamma switches.

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