Frequency of the ESD*5 allele in a Spanish population

The red blood cell esterase D (ESD) polymorphism was studied by means of IEF in a North-East Spanish population (Barcelona). Gene frequencies in 430 unrelated individuals were ESD*1: 0.888, ESD*2: 0.091 and ESD*5: 0.021. Our data confirm previous results showing that ESD*5 occurs in polymorphic frequency and has a Caucasian origin.     

Population genetic studies of the Philippine Negritos. I. A pilot survey of red cell enzyme and serum protein groups

Electrophoretic surveys of red cell enzyme and serum protein systems representing 21 genetic loci were carried out on 129 blood samples of the Negritos of Pampanga, Central Luzon, the Philippines. Nine (out of 16) red cell enzyme loci and four (out of five) serum protein loci showed polymorphic variation. Low frequencies of ACP 1A, GPTs1, ESD2, and Hp1, and a markedly high frequency of PGM12 were contrasted to those in non-Negrito Filipinos. Variant ESD phenotypes with a slowly migrating isozyme occurred in high frequency. The new allele designated as ESD3Negrito (ESD3N) had a frequency of .10 +/- .019. In AK, a variant phenotype indistinguishable from AK 2-1 was observed in 14% of the sample. In the Gc system, a fast migrating variant was discovered in high frequency which was distinct from Gc Ab and Gc J. The variant allele, denoted GcNegrito (GcN), had a frequency of .21 +/- .025. A relatively high degree of allelic diversity in the Negrito sample was also suggested by the average heterozygosity for 21 loci screened (.165), which is compared to that of the Japanese population (.140).     

Molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms in introns

The two polymorphic alleles of esterase D (ESD), ESD*5 and ESD*7, are specific to Europeans and Asians, respectively. In this study the molecular basis was characterized: ESD*5, arising from ESD*1, has a G to A transition, resulting in Gly257(GGT) --> Asp(GAT); and ESD*7, originating from ESD*2, has an A to G transition, resulting in Asp231(GAT) --> Gly(GGT). Glycine is also involved in the common ESD*1/ESD*2 polymorphism [Gly190(GGA) --> Glu(GAA)]. Haplotype analysis using a few novel intragenic polymorphisms showed strong associations among polymorphic sites, suggesting that recombination has been less frequent in the human ESD gene, although it spans about 25 kb from exon 1 to exon 10. A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese.     

Molecular evidence that the esterase-D gene lies proximal to the retinoblastoma susceptibility locus in chromosome region 13q14

Summary Somatic cell hybrids have been created between transformed mouse 3T3 cells and fibroblasts from a retino-blatoma patient with normal red-cell esterase-D (ESD) levels and a constitutional deletion of chromosome region 13q14-q31. In one subclone, which has retained the deletion chromosome but not the homologous normal copy, we have demonstrated the presence of the human ESD gene sequence. The breakpoint in this patient therefore must have occurred between the ESD gene and the retinoblastoma (Rb) predisposition locus. We have also been able to demonstrate that the ESD gene lies proximally to be the Rb gene in region 13q14. The recently isolated 4.7R cDNA gene sequence was absent from the deletion-containing hybrid, a finding consistent with the hypothesis that this sequence represents the Rb gene itself.     

Red cell polymorphisms in Sardinia

Acid phosphatase (ACP1), esterase D (ESD) and phosphoglucomutase 1 (PGM1) polymorphisms have been studied in Sardinia and the following gene frequencies have been found: ACP1*A = 0.235, ACP1*B = 0.684 and ACP1*C = 0.081; ESD*2 = 0.118 and PGM1*2 = 0.233. These findings confirm the genetic uniqueness of Sardinians compared to the other Italian and European populations.     

Frequency of the ESD*5 allele in three ethnic groups in Minnesota

Summary Detection of the ESD*5 gene products was simplified by the use of isoelectric focusing (IEF). Gene frequencies for ESD*5 in whites, blacks and Amerindians from the State of Minnesota were 0.019, 0.002 and 0.000, respectively. The gene frequencies observed in the white data set were similar to those reported for European whites.     

Effect of egg storage duration and brooding temperatures on chick growth,intestine morphology and nutrient transporters

The effects of egg storage duration (ESD) and brooding temperature (BT) on BW, intestine development and nutrient transporters of broiler chicks were investigated. A total of 396 chicks obtained from eggs stored at 18°C for 3 days (ESD3-18°C) or at 14°C for 14 days (ESD14-14°C) before incubation were exposed to three BTs. Temperatures were initially set at 32°C, 34°C and 30°C for control (BT-Cont), high (BT-High) and low (BT-Low) BTs, respectively. Brooding temperatures were decreased by 2°C each at days 2, 7, 14 and 21. Body weight was measured at the day of hatch, 2, 7, 14, 21, 28 and 42. Cloacal temperatures of broilers were recorded from 1 to 14 days. Intestinal morphology and gene expression levels of H⁺-dependent peptide transporter (PepT1) and Na-dependent glucose (SGLT1) were evaluated on the day of hatch and 14. Cloacal temperatures of chicks were affected by BTs from days 1 to 8, being the lowest for BT-Low chicks. BT-High resulted in the heaviest BWs at 7 days, especially for ESD14-14°C chicks. This result was consistent with longer villus and larger villus area of ESD14-14°C chicks at BT-High conditions. From 14 days to slaughter age, BT had no effect on broiler weight. ESD3-18°C chicks were heavier than ESD14-14°C chicks up to 28 days. The PepT1 and SGLT1 expression levels were significantly higher in ESD3-18°C chicks than ESD14-14°C on the day of hatch. There was significant egg storage by BT interaction for PepT1 and SGLT1 transporters at day 14. ESD14-14°C chicks had significantly higher expression of PepT1 and SGLT1 at BT-Low than those at BT-Cont. ESD14-14°C chicks upregulated PepT1 gene expression 1.15 and 1.57-fold at BT-High and BT-Low, respectively, compared with BT-Cont, whereas PepT1 expression was downregulated 0.67 and 0.62-fold in ESD3-18°C chicks at BT-High and BT-Low. These results indicated that pre-incubation egg storage conditions and BTs affected intestine morphology and PepT1 and SGLT1 nutrient transporters expression in broiler chicks.     

The ESD polymorphism: Further studies of the ESD2 and ESD5 allele products

Summary Electrofocusing and agarose electrophoresis techniques both reveal polymorphism of ESD 2, which may be subdivided into two different proteins, coded for by genes allelic to ESD ^*1. After agarose electrophoresis, ESD 2 is slightly more anodally located than ESD 5, while the latter is considerably more acidic as revealed by electrofocusing in polyacrylamide gel slabs. Family studies have confirmed that each of the allele products behave as Mendelian characters: and the gene frequencies in a Norwegian population material are about 0.08 and 0.02 for the ESD ^*2 and ESD ^*5 alleles, respectively.     

Re-evaluation of the sublocalization of esterase D and its relation to the retinoblastoma locus by in situ hybridization

In situ hybridization of a cDNA probe for the esterase D gene (ESD) was carried out on human chromosomes. The probe hybridized most strongly to 13q14.2 and 13q14.3. This observation raises doubts concerning the most recently published assignment of ESD to 13q14.1. A deletion in an individual with retinoblastoma was reported to separate the closely linked ESD and retinoblastoma (RB1) loci, placing ESD proximal to RB1. Quantitative in situ hybridization studies of this deletion do not confirm this interpretation. Rather, they suggest that ESD is missing from the deleted chromosome 13 and duplicated on the normal homolog. From these findings, we conclude that the deletion in this individual cannot be used to determine the orientation nor the sublocalization of ESD and RB1 within the 13q14 region.     

Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D.

The genetic linkage of the loci for lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase (ESD) were examined by two-dimensional gel electrophoresis using blood from four informative families. No recombinants were observed in the four families totaling 17 children, giving a summed lod score of 4.221 at recombination fraction 0. This result indicates that the gene for LCP1 is closely linked to the ESD locus, which is assigned to the chromosomal region 13q14.11. This finding also suggests that the LCP1 locus is linked to the retinoblastoma gene, which is assigned to the same chromosomal region and closely linked to the ESD locus.     

Genetic Structure of Iranian-Speaking Populations from Azerbaijan Inferred from the Frequencies of Immunological and Biochemical Gene Markers

The data on the genetic studies of Iranian-speaking populations from Azerbaijan (Talyshs and Tats) are presented. In these populations gene frequency distributions for the immunological (AB0, MN, Rhesus-D, -C, -E, P, Lewis, and Kell-Chellano) and biochemical (HP, GC, C3, TF, 6PGD, GLO1, ESD, ACP1, and PGM1) gene markers were determined. Comparison of the genetic structure of the populations examined with the other Iranian-speaking populations (Persians and Kurds from Iran, Ossetins, and Tajiks) and Azerbaijanis showed that Iranian-speaking populations from Azerbaijan were more close to Azerbaijanis, than to Iranian-speaking populations inhabiting other world regions.     

The Russian gene pool. Genogeography of erythrocyte genetic markers (ACP1, PGM1, ESD, GLO1, 6-PGD)

The study continues the series of works on the Russian gene pool. Gene geographic analysis of five erythrocytic gene markers best studied in the Russian population (ACP1, PGM1, ESD, GLO1, and 6-PGD) has been performed. Gene-geographic electronic maps have been constructed for 13 alleles of these loci and their correlations with geographic latitude and longitude. For all maps, statistical characteristics are presented, including the variation range and mean gene frequencies, partial and multiple correlations with latitude and longitude, and parameters of heterozygosity and interpopulation diversity. The maps of eight alleles (ACP1*A, ACP1*C, PGM1*2+, PGM1*2-, PGM1*1-, ESD*1, GLO1*1, and PGD*C) are shown and analyzed in detail. The genetic relief and structural elements of the maps are compared with the ecumenical trends, main variation patterns of these genes in northern Eurasia, and genetic characteristics of the indigenous populations of the Urals and Europe.     

EARLY IN SHORT DAYS 7 (ESD7) encodes the catalytic subunit of DNA polymerase epsilon and is required for flowering repression through a mechanism involving epigenetic gene silencing

We have characterized a mutation affecting the Arabidopsis EARLY IN SHORT DAYS 7 (ESD7) gene encoding the catalytic subunit of DNA polymerase epsilon (ε), AtPOL2a. The esd7‐1 mutation causes early flowering independently of photoperiod, shortened inflorescence internodes and altered leaf and root development. esd7‐1 is a hypomorphic allele whereas knockout alleles displayed an embryo‐lethal phenotype. The esd7 early flowering phenotype requires functional FT and SOC1 proteins and might also be related to the misregulation of AG and AG‐like gene expression found in esd7. Genes involved in the modulation of chromatin structural dynamics, such as LHP1/TFL2 and EBS, which negatively regulate FT expression, were found to interact genetically with ESD7. In fact a molecular interaction between the carboxy terminus of ESD7 and TFL2 was demonstrated in vitro. Besides, fas2 mutations suppressed the esd7 early flowering phenotype and ICU2 was found to interact with ESD7. Discrete regions of the chromatin of FT and AG loci were enriched in activating epigenetic marks in the esd7‐1 mutant. We concluded that ESD7 might be participating in processes involved in chromatin‐mediated cellular memory.     

Genetic structure of the human population in the Po delta

The genetic structure of the population of Ferrara Province in the Po delta in Italy was investigated using chi 2 analysis, kinship analysis, analysis of correspondences, and geographical mapping of principal components of gene frequencies. chi 2 Analysis tests for Hardy-Weinberg equilibrium and for heterogeneity of gene and phenotype frequencies; kinship analysis tests for association between indicators of genetic and geographic proximity; analysis of correspondences relates localities and genetic systems in an eigenvectorial space; and geographic mapping displays the principal components of gene frequencies in the real space. In 1,364 adults in 26 residential units, seven presumably neutral isoenzyme systems were typed; ACP1 ESD, GLO I, GPT, PGD, PGM1 and PGP. It was found that average kinship for these neutral systems is correlated with geographic distance in this small area, but not as strongly as kinship for beta-thalassemia. A north-south gradient was observed for ESD. Analysis of correspondences indicated GPT, PGM1, and GLO I as the systems contributing most to differentiation within the province. The maps obtained from principal components of gene frequencies were consistent with the migrational history of the area.     

The gene pool of Belgorod oblast population: the distribution of immunological and biochemical gene markers

The frequencies of 33 alleles of 12 loci of immunological and biochemical gene markers (ABO, RH, HP, GC, TF, PI, C'3, ACP1, GLO1, PGM1, ESD, and 6-PGD) have been estimated in the indigenous Russian and Ukrainian populations of Belgorod oblast. Differences of the Belgorod population from other populations of Russia with respect to the genetic structure have been determined. It has been found that the frequency distributions of all alleles studied in the Belgorod population are similar to those typical of the genetic structure of Caucasoid populations.     

The gene pool of Belgorod oblast population: The distribution of immunological and biochemical gene markers

The frequencies of 33 alleles of 12 loci of immunological and biochemical gene markers (AB0, RH, HP, GC, TF, PI, C′3, ACP1, GLO1, PGM1, ESD, and 6-PGD) have been estimated in the indigenous Russian and Ukrainian populations of Belgorod oblast. Differences of the Belgorod population from other populations of Russia with respect to the genetic structure have been determined. It has been found that the frequency distributions of all alleles studied in the Belgorod population are similar to those typical of the genetic structure of Caucasoid populations.     

Genetic structure of the Iranian-speaking population of Azerbaijan from data on frequencies of immunologic and biochemical gene markers

The data on the genetic studies of Iranian-speaking populations from Azerbaijan (Talyshs and Tats) are presented. In these populations gene frequency distributions for the immunological (AB0, MN, Rhesus-D, -C, -E, P, Lewis, and Kell-Chellano) and biochemical (HP, GC, C'3, TF, 6PGD, GLO1, ESD, ACP1, and PGM1) gene markers were determined. Comparison of the genetic structure of the populations examined with the other Iranian-speaking populations (Persians and Kurds from Iran, Ossetins and Tajiks) and Azerbaijanis showed that Iranian-speaking populations from Azerbaijan were more close to Azerbaijanis, than to Iranian-speaking populations inhabiting other world regions.     

Extended polymorphism of the human esterase D isozyme system: description of a “new” allele EsD*11

Using "new" techniques (malic acid thin layer agarose gel electrophoresis and/or isoelectric focusing), the polymorphism of the human red cell isozyme system esterase D (ESD) was shown to be extended. We report the gene frequencies observed among 312 unrelated Caucasian individuals living in the Düsseldorf area. The finding of a "new" allele at the ESD locus is also described.     

Finding the mechanism of esterase D activation by a small molecule

People with reduced esterase D (ESD) activity are susceptible to many diseases. However, how to activate ESD is still unknown. To address the question, we identified that 4-chloro-2-(5-phenyl-1-(pyridin-2-yl)-4, 5-dihydro-1H-pyrazol-3-yl) phenol (FPD5) could be a good candidate activator for ESD activity. We found that FPD5 could increase ESD activity in a dose-dependent way. FPD5 bound directly to ESD at Lys180 rather than its ubiquitination site Lys213. Site-directed mutagenesis at the binding site or the ubiquitination site inhibited FPD5 action. FPD5 increased the level of ESD mono-ubiquitination and mutESD K213A completely inhibited this action. Our findings highlighted the activation mechanism of ESD via promoting the mono-ubiquitination of ESD.