scholarly journals A STUDY OF ENZYME ACTIVITIES IN A DOSAGE SERIES OF THE LONG ARM OF CHROMOSOME ONE IN MAIZE

Genetics ◽  
1979 ◽  
Vol 92 (4) ◽  
pp. 1211-1229
Author(s):  
James A Birchler

ABSTRACT The enzyme activity levels of alcohol, malate, isocitrate, glucose-6-phosphate and 6-phosphogluconate dehydrogenases were determined in mature maize scutella in a series of one to four doses of the long arm of chromosome 1, produced by the B-A translocation 1La. Although the Adh structural locus was varied, ADH levels did not exhibit a gene-dosage effect. The levels of GGPDH, GPGDH and IDH were negatively correlated with the dosage of 1L. MDH was unresponsive. The esterase-8 enzyme, whose structural locus was demonstrated to be elsewhere in the genome, was also negatively correlated with 1L dosage. The portion of the B chromosome involved in the translocation was shown to have no effect on the enzyme levels. Measurements of cell size and hydrolysable DNA per mg dry weight revealed no change in the number of cells through the one, two and three dose series. The topic of enzyme alterations in aneuploids is reviewed.

Genetics ◽  
1981 ◽  
Vol 99 (2) ◽  
pp. 247-266
Author(s):  
James A Birchler ◽  
Kathleen J Newton

ABSTRACT Genetically defined dosage series of chromosome arms 1L, 3L, 4S, 5L, 7L, 9S, 10L and combinations of 1L-3L, collectively spanning approximately one-third of the maize genome, were examined for alterations in the expression of total protein profiles in scutellar tissue. The major effects found were negative correlations of specific proteins with the dosage of particular regions in a manner similar to that previously described for enzyme activity levels (Birchler 1979). Chromosome arms 1L, 4S and 5L produced the most severe negative effects, with 3L and 7L exhibiting this phenomenon to a lesser degree. Positive correlations of certain proteins were observed with the dosage of the 1L, 3L, 5L and 7L regions. The structural locus of one of the major scutellar proteins (PRO) is present in the long arm of chromosome 1 (Schwartz 1979), but exhibits compensation in a dosage series involving whole-arm comparisons. Multiple factors in 1L affect the level of the protein. The compound TB-1La-3L4759-3 (1L 0.20-0.39) has a slight negative effect on PRO, while TB-1La-3Le (1L 0.20-0.58) and TB-1La-3L5267 (1L 0.20-0.72) have a more pronounced negative influence. The level of this protein is not altered by the dosage of 3L. These observations suggest that compensation is brought about by the cancellation of a positive structural gene dosage effect by the negative inverse effect. Other regions of the genome that contribute to the control of PRO levels are 4S and 5L. Total protein profiles were also compared in haploid, diploid and tetraploid maize as a comparison to the aneuploid series. Most proteins exhibit structural-gene-dosage effects through the ploidy series, but others show a positive effect greater than expected from varying the structural genes. Still others are negatively affected by ploidy changes. In general, the ploidy alterations are not as great as predicted from the cumulative action of the aneuploid effects. The bearing of these observations on the biochemical basis of aneuploid syndromes is discussed.


1992 ◽  
Vol 4 (4) ◽  
pp. 434-440 ◽  
Author(s):  
Kevin T. Cavanagh ◽  
Margaret Z. Jones ◽  
Bruce Abbitt ◽  
Ronald Skinner

Plasma β-mannosidase activities were determined for Salers cattle from 8 herds as an evaluation of this method for detection of β-mannosidosis heterozygotes. Several biological factors, such as age, gender, herd, and risk of being a β-mannosidosis carrier, were considered in this study. The mean enzyme activity for obligate heterozygotes (n = 8) was 55 U/ml (range = 43–65 U/ml), which was 59% of the mean enzyme activity for cattle that were low risk for being a carrier. These data indicate that bovine β-mannosidosis is characterized by a gene dosage effect. The analytical and biological variation of plasma β-mannosidase activity that was observed necessitates limiting the test to adult fullblood/purebred Salers cattle within a herd. Plasma β-mannosidase analysis provides important information for intraherd selection of Salers cattle that are heterozygous for β-mannosidosis.


Genetics ◽  
1983 ◽  
Vol 103 (2) ◽  
pp. 277-285 ◽  
Author(s):  
Ryuichi Konno ◽  
Yosihiro Yasumura

ABSTRACT d-Amino acid oxidase activity in the kidney homogenates of mice of seven strains was measured to search for a mutant for this enzyme. There was a consistent sex difference in the enzyme activity in these strains: male mice showed higher levels of the enzyme activity than females. In contrast to other strains, some mice of the ddY strain did not possess enzyme activity. This trait was inheritable, and a mouse stock without enzyme activity (DAO-) was established. The allele (Dao-1c) carried by the DAO- mice was recessive and behaved as a single autosomal gene in inheritance. Heterozygous mice for this gene (Dao-1  +/Dao-1c) showed nearly half the enzyme activity of the wild-type homozygotes (Dao-1  +/Dao-1  +), suggesting that Dao-1c is a null allele and that there is a gene dosage effect on the enzyme activity.


1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN

2021 ◽  
Vol 7 (2) ◽  
pp. 28
Author(s):  
Camille S. Corre ◽  
Dietrich Matern ◽  
Joan E. Pellegrino ◽  
Carlos A. Saavedra-Matiz ◽  
Joseph J. Orsini ◽  
...  

Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires identification and risk-stratification of patients based on laboratory values to predict disease onset in early infancy or later in life. The biomarker psychosine plays a key role in NBS algorithms to ascertain probability of early-onset disease. This report describes a patient who was screened positive for KD in New York State, had a likely pathogenic genotype, and showed markedly reduced enzyme activity but surprisingly low psychosine levels. The patient ultimately developed KD in late infancy, an outcome not clearly predicted by existing NBS algorithms. It remains critical that psychosine levels be evaluated alongside genotype, enzyme activity levels, and the patient’s evolving clinical presentation, ideally in consultation with experts in KD, in order to guide diagnosis and plans for monitoring.


Genetics ◽  
2003 ◽  
Vol 165 (4) ◽  
pp. 2269-2282
Author(s):  
D Mester ◽  
Y Ronin ◽  
D Minkov ◽  
E Nevo ◽  
A Korol

Abstract This article is devoted to the problem of ordering in linkage groups with many dozens or even hundreds of markers. The ordering problem belongs to the field of discrete optimization on a set of all possible orders, amounting to n!/2 for n loci; hence it is considered an NP-hard problem. Several authors attempted to employ the methods developed in the well-known traveling salesman problem (TSP) for multilocus ordering, using the assumption that for a set of linked loci the true order will be the one that minimizes the total length of the linkage group. A novel, fast, and reliable algorithm developed for the TSP and based on evolution-strategy discrete optimization was applied in this study for multilocus ordering on the basis of pairwise recombination frequencies. The quality of derived maps under various complications (dominant vs. codominant markers, marker misclassification, negative and positive interference, and missing data) was analyzed using simulated data with ∼50-400 markers. High performance of the employed algorithm allows systematic treatment of the problem of verification of the obtained multilocus orders on the basis of computing-intensive bootstrap and/or jackknife approaches for detecting and removing questionable marker scores, thereby stabilizing the resulting maps. Parallel calculation technology can easily be adopted for further acceleration of the proposed algorithm. Real data analysis (on maize chromosome 1 with 230 markers) is provided to illustrate the proposed methodology.


Energies ◽  
2020 ◽  
Vol 13 (7) ◽  
pp. 1766 ◽  
Author(s):  
Alessandro Suardi ◽  
Sergio Saia ◽  
Walter Stefanoni ◽  
Carina Gunnarsson ◽  
Martin Sundberg ◽  
...  

The collection of residues from staple crop may contribute to meet EU regulations in renewable energy production without harming soil quality. At a global scale, chaff may have great potential to be used as a bioenergy source. However, chaff is not usually collected, and its loss can consist of up to one-fifth of the residual biomass harvestable. In the present work, a spreader able to manage the chaff (either spreading [SPR] on the soil aside to the straw swath or admixed [ADM] with the straw) at varying threshing conditions (with either 1 or 2 threshing rotors [1R and 2R, respectively] in the combine, which affects the mean length of the straw pieces). The fractions of the biomass available in field (grain, chaff, straw, and stubble) were measured, along with the performances of both grain harvesting and baling operations. Admixing chaff allowed for a slightly higher amount of straw fresh weight baled compared to SPR (+336 kg straw ha−1), but such result was not evident on a dry weight basis. At the one time, admixing chaff reduced the material capacity of the combine by 12.9%. Using 2R compared to 1R strongly reduced the length of the straw pieces, and increased the bale unit weight; however, it reduced the field efficiency of the grain harvesting operations by 11.9%. On average, the straw loss did not vary by the treatments applied and was 44% of the total residues available (computed excluding the stubble). In conclusion, admixing of chaff with straw is an option to increase the residues collected without compromising grain harvesting and straw baling efficiencies; in addition, it can reduce the energy needs for the bale logistics. According to the present data, improving the chaff collection can allow halving the loss of residues. However, further studies are needed to optimise both the chaff and the straw recoveries.


1977 ◽  
Vol 6 (5) ◽  
pp. 529-532 ◽  
Author(s):  
S. JARAMILLO ◽  
G. ANHORN ◽  
F. SCHUNTER ◽  
P. WERNET

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