Genetics of alkaline phosphatase of the small intestine of the house mouse (Mus musculus)

Four inbred strains of mice exhibited either slow (PL/J), intermediate (DBA/2J, LP/J), or fast (SWR/J) rates of migration of duodenal alkaline phosphatase on cellulose acetate electrophoresis. Hybrids of these strains also had intermediate rates of migration regardless of the combination of strains used as parents. Strain differences were present in all regions of the small but not the large intestine. Crosses of the PL/J strain to hybrids between this strain and the other three strains gave a 1:1 segregation of the slow and intermediate patterns. The symbol Akp-3 is proposed for the locus responsible for the slower migration of the enzyme in this strain. Data from the LP/J × PL/J hybrid crossed with the PL/J strain showed linkage with two loci on chromosome 1 as follows: centromere—Idh-1–13.8±3.1 cM—Akp-3–8.9±2.6 cM—Pep-3. The available data do not reveal the genetic basis for the faster migration rate of the enzyme from the SWR/J strain, but a different response to neuraminidase and apparent nonlinkage to the Pep-3 locus suggest that a locus other than Akp-3 is responsible.This work was supported by a grant from the University Research Committee, Indiana State University.     

Esterases of Mus musculus: Substrate and inhibition characteristics,new isozymes,and homologies with man

A wide range of fluorogenic and naphthol esters has been tested as substrates for mouse esterases. New esterases have been identified in liver and kidney extracts with palmityl, oleyl, and elaidyl esters. From substrate, inhibition, and molecular weight studies, three homologies between human and mouse esterases are suggested. A new allele at Es-6 is also described.This work was supported by the Medical Research Council.     

Nonspecific esterases of Mus musculus

Seventeen genes controlling the expression of carboxylic ester hydrolases, commonly known as esterases, have been identified in the mouse Mus musculus. Seven esterase loci are found on chromosome 8, where two clusters of esterase loci occur. It seems probable that the genes within these clusters have arisen from a common ancestral gene by tandem duplication. Close linkage of esterase genes is also found in the rat, rabbit, and prairie vole. Some mouse esterases appear to be homologous with certain human esterases. The function of these nonspecific enzymes is still unknown.     

Polymorphism of esterase 11 in Mus musculus,a further esterase locus on chromosome 8

A further esterase, esterase 11, which exhibits a polymorphism detectable by electrophoresis, has been observed in the house mouse, Mus musculus. In 15 inbred strains and two outbred strains, the ES-11A phenotype has been found, composed of two bands of enzyme activity of greater anodal electrophoretic mobility than the two bands of the ES-11B phenotype found in one inbred strain, one wild stock, and 101 wild mice. In F₁ hybrids (IS/Cam×C57 BL/Gr), the phenotype shown corresponds to a mixture of the two parental phenotypes. In backcrosses, ES-11 segregates as an autosomal gene, designated Es-11, closely linked to Es-2 and Es-5 on chromosome 8.This work was supported by the Medical Research Council.     

Polymorphism of esterase-10 in Mus musculus

An esterase, esterase-10, in the house mouse, Mus musculus, is specific for esters of 4-methylumbelliferone and exhibits a polymorphism detectable by electrophoresis. Fifteen inbred strains and two outbred strains have been examined for this polymorphism, and two phenotypes, ES-10A and ES-10B, have been observed. Each phenotype manifests itself as a single band of enzyme activity, but under the electrophoretic conditions used the ES-10A phenotype has less anodal electrophoretic mobility than the ES-10B phenotype. In F₁ hybrids (C3H/He/Lac×C57BL/Gr) a third phenotype was observed, ES-10AB, consisting of three bands of enzyme activity, two of which correspond to the parental forms and the third with intermediate mobility. The triple-band pattern in the F₁ hybrids indicates that esterase-10 is a dimeric enzyme protein.This work was supported by the Medical Research Council.     

Linkage of the locus for conversion of albumin (Acf-1)in the house mouse,Mus musculus

The linkage of the locus for conversion of albumin (Acf-1) has been established on chromosome 1 with the following gene order and recombination percentages: Id-1 19.3±5.2% Acf-1 4.2±1.7% Dip-1 18.4±4.2% Lp.This work was supported by NIH Postdoctoral Fellowship 1F32 GM0527701, Grant BMS75-03397 from the National Science Foundation, Grant ACS VC-17-R from the American Cancer Society, and Contract NO1-ES42159 from the National Institute of Environmental Health Sciences. The Jackson Laboratory is fully accredited by the American Association for the Accreditation of Laboratory Animal Care.     

Genetic analysis of nonhistone chromosomal protein inheritance in recombinant inbred mouse strains using two-dimensional electrophoresis

Analysis of hepatic nonhistone chromosomal protein (NHCP) expression in male mice from progenitor strains (C3H/HeN, C57BL/6N), their F₁ hybrid (B6C3), and seven recombinant inbred strains (RIs) (B6N×C3N) by high-resolution two-dimensional polyacrylamide gel electrophoresis (2D-PAGE) detected 16 NHCPs whose expression in RIs could be correlated to each other and with strain distribution patterns (SDP) of 20 genetic markers differing in the progenitors. Of the 400₊ NHCP spots detected in RI 2D-PAGE maps, 172 were common to progenitors and all RIs. There was a characteristic absence of five NHCPs in one RI, Y. Ten C3H-specific and six C57-specific NHCP inherited in B6C3 also appeared in RIs. The SDP of C3H-specific NHCP 2 matched the SDP of beta-glucuronidase on chromosome 5 and carbonic anhydrase on chromosome 3, and C57-specific NHCP 5 SDP corresponded to that for nonagouti trait on chromosome 2. These 16 NHCP genetic marker inheritance differences detected in RIs add to the 23 previously established genetic marker differences between the progenitors.This study was supported in part by funds from NIH Grants CA 33305 and CA 16672 and Exxon Corporation, USA.     

Structural differences between albumin A and albumin C of the house mouse,Mus musculus

Two albumins, albumin A from C3H mice and albumin C isolated from descendents of the wild mice in which the variant was first uncovered, were found to differ in their electrophoretic properties. Albumin C was shown to bind two more H⁺ ions than albumin A at pH 5.4. Peptide mapping after trypsin digestion revealed that albumin C had three peptides (TP-C1, TP-C2, and TP-C3) which were missing in albumin A. The latter likewise had a peptide (TP-A1) which was not found in albumin C. An amino acid analysis of the variant peptides suggests that TP-A1 had been split into TP-C1 and TP-C2 on digestion with trypsin, because a glutamic acid in TP-A1 was replaced by a lysine. This change would also appropriately alter the electrophoretic properties of albumin C. No obvious counterpart was discovered for TP-C3 of albumin C in albumin A.This work was supported by a grant from the National Research Council of Canada.     

Kidney esterases of Mus musculus: Further polymorphism of esterase-6, esterase-9, and a new esterase,esterase-20

The comparison of results obtained by different separation and staining techniques permits the definition of esterase-6 in comparison with esterase-9 and a new esterase, esterase-20. Alleles of Es-6 affect the product's ability to aggregate. Esterase-20 may be an aggregated product of Es-9. The close linkage of Es-6 and Es-9 is confirmed. Homology of esterase-6 with esterases from other mammalian species is also suggested.HRN was supported by the Medical Research Council. This is communication No. 32 of a research program devoted to the cellular distribution, genetics, and regulation of nonspecific esterases.     

Genetic analysis of gliadin components in winter wheat using two-dimensional polyacrylamide gel electrophoresis

Summary Blocks of gliadin components found both in a number of varieties and in single F₂ grains of winter wheat intervarietal hybrids have been studied by two-dimensional electrophoresis combining electrophoresis in acidic aluminium-lactate buffer (pH3.1) and SDS-electrophoresis. Gliadin components (spots) have been shown to be inherited as linked groups (blocks), codominantly and in accordance with a gene dosage in triploid endosperm. Blocks include components differing in their electrophoretic mobility and molecular weight. Some allelic variants of blocks differ only in presence of few additional components or in the electrophoretic mobility of components with similar molecular weights; other variants may contain no similar components. Apparently, in the course of evolution, mutations in individual genes of gliadin-coding loci and processes changing the number of expressing genes and the sizes of their structural part occurred.     

Genetic differentiation ofDrosophila melanogaster populations as assessed by two-dimensional electrophoresis

Seven populations ofDrosophila melanogaster, representing a worldwide distribution, were compared using two-dimensional protein gel electrophoresis. A total of 611 protein spots was scored, which probably represent a sample of over 500 loci that were surveyed. Of the protein spots scored, 521 spots were found to be invariant, but another 90 spots were found to be variable among the populations. Of these variable protein spots, 12 were found to be present in only one population. All the populations, except one, had at least one protein spot restricted to itself. However, the Japanese population had by far the most, with five protein spots restricted to this one population, which has been observed in previous studies of private alleles in oriental populations. The mean genetic similarity (F) found among the seven populations was 0.965, with a range of between 0.956 and 0.977. This is similar to previous reports of lower variation found in population genetic surveys using two-dimensional electrophoresis. It was found that the historical relationships among these populations was somewhat congruent with the geographic distribution of the populations, but as in previous studies, it was not exactly coincident.     

Genetic Heterogeneity in the Indian Mus musculus

This study deals with the characterization of 10populations of M. musculus from differentgeographical locations in India. The genetics of Indianwild mice has been completely obscure and this is thefirst report on allozyme variations in the naturalpopulation. We have used a set of 24 biochemical geneticmarkers to measure levels of diversity within and amongpopulations. The allelic frequency data indicate extreme genetic variability, which is furtherenhanced by the presence of novel alleles. Overall thespecies shows a high level of heterogenity. The highlypolymorphic central populations of M. musculus cannot be assigned to any one particularsubspecies. The allelic profiles, however, indicate agradual differentiation toward the castaneus andbatcrianus subspecies lineages.     

Linkage relationships of peptidase-7, Pep-7, in the mouse

An electrophoretically detectable variant of peptidase-7 in Mus musculus has been found and used to locate the structural gene, Pep-7, on chromosome 5. Gene order and recombination frequencies are estimated as Pep-7 3.5±2.0 Rw 8.8±2.2 go 20.0±4.6 bf.     

Analysis of total proteins in pollen of Humulus scandens Lour in Wuhan Region of China by two-dimensional electrophoresis

Total proteins in the pollen of Humulus scandens Lour, one of the most popular aeroallergens in China, were analyzed by two-dimensional electrophoresis in the current study. The proteins were extracted by Trichloracetic acid (TCA) method, and then separated by isoelectric focusing as the first dimension and SDS-PAGE as the second dimension. The spots of proteins were visualized by staining with Coomassie Brilliant Blue. After analysis with software (ImageMaster 2D), 122 different proteins were detected; isoelectric point (pI), Molecular weight (MW) and relative volume of each protein in the pollen were also discovered. This is the first high-resolution, two-dimensional protein map of the pollen of Humulus scandens Lour in China. Our finding has built a solid foundation for identification, characterization, gene cloning and standardization of allergenic proteins in the pollen of Humulus scandens Lour for further studies. Translated from Journal of Wuhan Botanical Research, 2006, 24(1): 58–62 [译自: 武汉植物研究]     

Studies of the gene expression in a somatic hybrid of dihaploid Solanum tuberosum and diploid S. brevidens using two-dimensional protein electrophoresis

Two-dimensional protein electrophoretic patterns of leaf, stem and microtuber were compared between a somatic hybrid (Solanum tuberosum + S. brevidens) and parental plants. Polypeptide spots observed in leaf of the somatic hybrid (BT-1) were similar to those of S. brevidens. In the stem of BT-1, the spots characteristic for each parental plants were also observed. Three specific spots (W, X, Y) found in BT-1 were identical to those of S. tuberosum, however their appearance in S. brevidens depended on the culture conditions (observed at 16h daylength regime, but not in the dark with high sucrose concentration). Potato tuber storage protein patatin was observed in small amounts in the microtubers of BT-1. The data indicated that gene expression unique to each parental plants also existed in the somatic hybrid.Abbreviations BAP 6-benzylaminopurine - 2,4-D (2,4-dichlorophenoxy) acetic acid - IAA indole-3-acetic acid - MES 2-(N-morpholino) ethanesulfonic acid - NAA 1-naphthaleneacetic acid - PAGE polyacrylamide gel electrophoresis - SDS sodium dodecylsulfate     

Simplified typing of mouse hemoglobin (Hbb) phenotypes using cystamine

Cellulose acetate electrophoresis of mouse hemoglobins modified with the disulfide reagent cystamine permits rapid, unequivocal discrimination of all combinations of the codominant mouse hemoglobin single (Hbb ^s ) and diffuse (Hbb ^d and Hbb ^p ) alleles. The single, diffuse major, diffuse d-minor, and diffuse p-minor adult hemoglobins are all resolved by this method, which depends on the presence of a cysteine in the chains of diffuse mice which is not found in the chain of single mice.This work was supported by research grants ACS-VC58 and NIH CA-01074. The Jackson Laboratory is fully accredited by the American Association for Accreditation of Laboratory Animal Care.     

Linkage of lactate dehydrogenase-2, Ldh-2, in the mouse

An electrophoretically detectable variant of lactate dehydrogenase-2 in Mus musculus has been found and used to locate the structural gene, Ldh-2, on chromosome 6. Gene order and recombination frequencies are estimated as Sig—36.0±4.8—Lc 21.0±4.1—Mi ^wh—20.0±4.0—Ldh-2.     

Xylose dehydrogenase-1, a new gene on mouse chromosome 7

We report a new enzyme xylose dehydrogenase, the structural locus for which is on chromosome 7 of the mouse, closely linked to Tam-1. Three alleles have been detected in both laboratory strains and wild populations. Two of these determine proteins differing in electrophoretic mobility and the third is a null. This easily scored variation may prove useful both for gene mapping and in population genetics.This work was supported by the Medical Research Council.     

Genomic copy number variation in Mus musculus

Background

Copy number variation is an important dimension of genetic diversity and has implications in development and disease. As an important model organism, the mouse is a prime candidate for copy number variant (CNV) characterization, but this has yet to be completed for a large sample size. Here we report CNV analysis of publicly available, high-density microarray data files for 351 mouse tail samples, including 290 mice that had not been characterized for CNVs previously.

Results

We found 9634 putative autosomal CNVs across the samples affecting 6.87 % of the mouse reference genome. We find significant differences in the degree of CNV uniqueness (single sample occurrence) and the nature of CNV-gene overlap between wild-caught mice and classical laboratory strains. CNV-gene overlap was associated with lipid metabolism, pheromone response and olfaction compared to immunity, carbohydrate metabolism and amino-acid metabolism for wild-caught mice and classical laboratory strains, respectively. Using two subspecies of wild-caught Mus musculus, we identified putative CNVs unique to those subspecies and show this diversity is better captured by wild-derived laboratory strains than by the classical laboratory strains. A total of 9 genic copy number variable regions (CNVRs) were selected for experimental confirmation by droplet digital PCR (ddPCR).

Conclusion

The analysis we present is a comprehensive, genome-wide analysis of CNVs in Mus musculus, which increases the number of known variants in the species and will accelerate the identification of novel variants in future studies.

Electronic supplementary material

The online version of this article (doi:10.1186/s12864-015-1713-z) contains supplementary material, which is available to authorized users.     

Polymorphism of kidney pyruvate kinase in the mouse is determined by a gene,Pk-3, on chromosome 9

An electrophoretically detectable variant of pyruvate kinase (EC 2.7.1.40) has been found in the house mouse Mus musculus. The variant was seen in all tissues examined except liver and red cells. The gene (Pk-3) determining this electrophoretic variation is inherited as an autosomal codominant located on chromosome 9. Our data confirm that the genetic determination of pyruvate kinase in liver and red cells is separate from that in other tissues. In addition, our results indicate that the muscle (M₁) and kidney (M₂) pyruvate kinase isozymes share at least one genetic determinant and may in fact be determined by the same structural gene.This work was supported by the Medical Research Council and by NIH Grants GM 20919 and RR 01183. The Jackson Laboratory is fully accredited by the American Association for Accreditation of Laboratory Animal Care.