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Polymorphisms of the porcine dopamine beta-hydroxylase gene and their relation to reproduction and piglet survivability in an Iberian x Meishan F2 intercross.

The goals of this study were to sequence and physically map the porcine dopaminebeta-hydroxylase (DBH) gene, as well as to perform an association study between polymorphisms of this gene and the reproductive performance and piglet survivability of F(2) pigs from an Iberian x Meishan cross. The porcine DBH gene was positioned by RH mapping near the telomere of chromosome 1q2.13, close to markers SSC10D08 and SW1301. Sequencing of DBH cDNAs from 10 pigs revealed the existence of six nucleotide polymorphisms, two of which led to non-synonymous amino acid substitutions within exon 3 at positions 463A>G and 616A>G that corresponded to Thr155Ala and Lys206Glu respectively. Three haplotypes segregated in an Iberian x Meishan population: DBH(X) (A(436)-A(616)), DBH(Y) (A(436)-G(616)) and DBH(Z) (G(436)-G(616)). The DBH haplotypes significantly affected rectal temperatures 1 h after birth (P = 0.002) and have a suggestive effect on the time to first colostrum intake (P = 0.019) and on birth weight (P = 0.019).

Animals↗

A case of chloroplast heteroplasmy in kiwifruit (Actinidia deliciosa) that is not transmitted during sexual reproduction.

We report the first case of plastid chimera within the Actinidia genus, where plastid inheritance was believed to be paternal. The heterogeneity of chloroplast DNA observed in the hexaploid Actinidia deliciosa cultivar D uno involves the presence or absence of a particular MspI restriction site in the region between the psbC gene and the tRNA-Ser(UGA) gene. The heterogeneity was first observed using restriction fragment length polymorphism and then confirmed through cloning and sequencing. The analysis of the cloned fragments revealed the presence of two haplotypes: the most frequent type was found in 123 (88.5%) out of a total of 139 colonies screened. Partial sequences of the psbC-trnS fragment from both haplotypes revealed that the polymorphism occurs within the coding region of the psbC gene and consists of a synonymous transition. A contamination-free cross involving D uno as the male parent produced only plants characterized by the most frequent haplotype, indicating either selection bias against the rare type or more likely fixation of the frequent type in tissues leading to the formation of the male gametes. The MspI restriction profiles performed on various tissues suggest that the rarer type is absent from the histogenic layer LII and that D uno is a periclinal plastid chimera.

Actinidia↗

Growth hormone gene polymorphism and reproductive performance of AI bulls.

Relationships between the growth hormone gene RFLP polymorphism and bull sperm characteristics were the objects of the present study. DNA was extracted from blood or sperm samples collected from 113 AI bulls and submitted for polymerase chain reaction (PCR) followed by digestion with Alu I restriction enzyme. The bGH genotypes were visualized on 10% polyacrylamide gel. The analyzed population of AI bulls consisted of dairy (Holstein Fresian [HF] crossbred [HF x Polish Black and White]) and beef breeds (Limousine, Charolaise, Piemontese, Angus and Hereford). The frequency of the Leu allele was 0.86 among dairy bulls and 0.38 in beef bulls (0.14 and 0.62 for the Val allele, respectively). Eight sperm characteristics and Day 60 non-return rates (NRR) were analyzed. The 3 genotype groups (LL, VV and LV) and the effect of production type (dairy or beef) on sperm characteristics were considered. None of the traits showed significant variability in relation to the bGH genotype, although a tendency was observed for LL bulls to have a lower ejaculate volume and VV bulls higher NRR. Moreover some statistically significant associations with production type were noticed: beef bulls were superior in sperm concentration and non-return rate, whereas dairy bulls excelled in individual fresh sperm motility.

Animals↗

Ameiotic recombination in asexual lineages of Daphnia.

Despite the enormous theoretical attention given to the evolutionary consequences of sexual reproduction, the validity of the key assumptions on which the theory depends rarely has been evaluated. It is often argued that a reduced ability to purge deleterious mutations condemns asexual lineages to an early extinction. However, most well characterized asexual lineages fail to exhibit the high levels of neutral allelic divergence expected in the absence of recombination. With purely descriptive data, it is difficult to evaluate whether this pattern is a consequence of the rapid demise of asexual lineages, an unusual degree of mutational stability, or recombination. Here, we show in mutation-accumulation lines of asexual Daphnia that the rate of loss of nucleotide heterozygosity by ameiotic recombination is substantially greater than the rate of introduction of new variation by mutation. This suggests that the evolutionary potential of asexual diploid species is not only a matter of mutation accumulation and reduced efficiency of selection, and [corrected] it underscores the limited utility of using neutral allelic divergence as an indicator of ancient asexuality.

Animals↗

Screening the foods of an endangered parrot, the kakapo (Strigops habroptilus), for oestrogenic activity using a recombinant yeast bioassay.

In recent years the possibility of environmental oestrogens affecting the reproduction of vertebrates has become an issue of both public and scientific interest. Although the significance of such chemicals remains controversial there is clear evidence that, in some contexts, environmental oestrogens can influence the fertility of vertebrates. Highly endangered species represent a situation in which even modest reductions in the fertility of key individuals may have implications for the survival of the entire species. This paper reports the screening of both natural and supplementary foods of the kakapo (Strigops habroptilus), a critically endangered New Zealand nocturnal parrot, for oestrogenic activity using a recombinant yeast based bioassay. Low levels of oestrogenic activity were detected in one of the 'chick-raising' foods, but no oestrogenic activity was detected in the adult supplementary foods. The oestrogenicity of a range of phytochemicals possibly associated with the kakapo natural diet was also examined. Two such phytochemicals, podocarpic acid and its reduced derivative podocarpinol, showed weak oestrogenic activity (approximately 10(-6) and 10(-4) of the activity of 17-beta-oestradiol, respectively).

Abietanes↗

Genetic and environmental effects upon reproductive performance of Holstein crossbreds in the Sudan.

Data from a herd near Khartoum for 1955 to 1977 were evaluated. Climate was semidesert with most rainfall (151 of 165 mm) in July through September. Mean maximum daily temperatures ranged from 30.7 (January) to 41.1 degrees C (May); mean minima were 14.6 degrees C (January) and 26.9 degrees C (June). Original base population (1907) was Butana with additions of Butana, Dairy Shorthorn, Ayrshire, Guernsey, and Holstein. Breed groups and % Holstein were 1, 0 to 25%; 2, 26 to 49%; 3, 50%; 4, 51 to 71%. Numbers and mean performance were gestation length, 2474, 279 d; services per conception, 2403, 2.07; calving interval, 4004, 441 d; days open, 3204, 165 d. Calving intervals (1689) were shorter for Group 3 -25 to -31 d as were postpartum days open (-27 to -31 d), and number of services per conception was lower (.21 to .37). These animals were Holstein by Butana crossbreds, so their superior performance could reflect effects of heterosis. Gestation lengths were affected by month of parturition (January greater than June, 5.6 d), which also affected services per conception (March greater than August, .75 services). Over time, not gestation length but services per conception, calving interval, and days open increased. Repeatabilities and heritabilities for these measures were .14 and .07; .07 and 0; .10 and 0; .07 and 0. Phenotypic correlation between days open and calving interval was .99 and with gestation length was -.12. Other phenotypic correlations ranged from -.01 to -.04. Heritability of age at first parturition (888) was .31. Estimates were similar to those from temperate dairy areas.

Animals↗

Homeobox genes, fossils, and the origin of species.

Ever since Darwin there has been a history of debate on the tempo and mode of evolution. Is speciation a gradual process involving the accumulation of minute variations extant within a species, or is it rapid, the result of major organismal reorganization? Does one define a species on the basis of genes, morphology, or geographic or reproductive isolation? In this communication I present a model of evolutionary change that is based on the Mendelian inheritance of mutations in regulatory genes and the fact that most nonlethal mutations arise in the recessive state. Since the new recessive allele will spread through many generations without expression until there is a critical mass of heterozygotes capable of producing homozygotes for the mutation, the novel feature thus produced will appear abruptly in the population and in more than one individual. This picture of punctuation is consistent with the fossil record, which typically fails to provide evidence of smoothly transitional states of morphological change. Given that the first of their kind in the fossil record are organisms in which their novel characteristics are often more fully expressed or complex than in their descendants, it would seem that, after the mutation involving a regulatory gene is introduced, the general tendency is for its effects to become diminished. Among the implications for speciation is that this process does not depend on either reproductive isolation or genetic incompatibility. Rather, barring effects on reproductive organs or behavior, homozygotes for a novelty should be able to breed with heterozygotes and homozygotes for the wild state of the original population. This, in turn, suggests that the species barrier between individuals is probably a matter of mate recognition.

Adaptation, Physiological↗

Growth patterns of Angus, Hereford and shorthorn cattle. I. Comparison of inbred and noninbred lines, changes in patterns over time and effects of level of inbreeding and reproductive performance.

Mature weight (A) and rate of maturing (K) were estimated for 283 Angus, 140 Hereford and 280 Shorthorn cows utilizing the asymptotic regression equation Yt=A(1-Be-Kt). The Yt was weight of the individual at age t; and B was an estimate related to early life weight changes and provided for a Y-intercept (A-B). Each breed consisted of four inbred and two noninbred lines. Regression of estimated growth curve parameters on levels of inbreeding of the individuals and of their dams and effects of early reproductive performance (EREPRO) were studied as sources of variation in addition to line differences and trends in line values over years. Considered jointly with inbreeding of the dam and with EREPRO, inbreeding of the individual was negatively related (P less than .01) to estimates of A in the three breeds and unrelated (P greater than .10) to estimates of K. Each 1% increase in inbreeding of the individual was associated with about 2 kg decrease in estimated mature weight. An increase in inbreeding of the dam of an individual was negatively related to estimates of K in Angus (P less than .01) and Shorthorns (P less than .05). Inbreeding of dams was positively related to estimates of A in the three breeds, but only in Shorthorns could the relationship be declared significant. Estimates of A were about 46 kg heavier and estimates of K about .010 less for each year an individual failed to produce a calf during her first three opportunities. In general, A values declined in all three breeds during the study. Significant changes were observed in all Hereford analyses and after inbreeding was included in the Angus analysis, while inclusion of inbreeding in the Shorthorn analysis caused the change to become unimportant. The K values increased in all three breeds during the study; however, the change could be declared significant only in Herefords.

Analysis of Variance↗

Natural hybrids in Atlantic eels (Anguilla anguilla, A. rostrata): evidence for successful reproduction and fluctuating abundance in space and time.

The outcome of natural hybridization is highly variable and depends on the nonexclusive effects of both pre- and post-mating reproductive barriers. The objective of this study was to address three specific questions regarding the dynamics of hybridization between the American and European eels (Anguilla rostrata and Anguilla anguilla). Using 373 AFLP loci, 1127 eels were genotyped, representing different life stages from both continents, as well as multiple Icelandic locations. We first evaluated the extent of hybridization and tested for the occurrence of hybrids beyond the first generation. Second, we tested whether hybrids were randomly distributed across continents and among Icelandic sampling sites. Third, we tested for a difference in the proportion of hybrids between glass eel and yellow eel stages in Iceland. Our results provided evidence for (i) an overall hybrid proportion of 15.5% in Iceland, with values ranging from 6.7% to 100% depending on life stages and locations; (ii) the existence of hybrids beyond the first generation; (iii) a nonrandom geographic distribution of hybrids in the North Atlantic; and (iv) a higher proportion of first and later generation hybrids in yellow eels compared to glass eels, as well as a significant latitudinal gradient in the proportion of hybrids in Icelandic freshwater. We propose that the combined effect of both differential survival of hybrids and variation in hybridization rate through time best explain these patterns. We discuss the possibility that climate change, which is impacting many environmental features in the North Atlantic, may have a determinant effect on the outcome of natural hybridization in Atlantic eels.

Anguilla↗

Generation and reproductive phenotypes of mice lacking estrogen receptor beta.

Estrogens influence the differentiation and maintenance of reproductive tissues and affect lipid metabolism and bone remodeling. Two estrogen receptors (ERs) have been identified to date, ERalpha and ERbeta. We previously generated and studied knockout mice lacking estrogen receptor alpha and reported severe reproductive and behavioral phenotypes including complete infertility of both male and female mice and absence of breast tissue development. Here we describe the generation of mice lacking estrogen receptor beta (ERbeta -/-) by insertion of a neomycin resistance gene into exon 3 of the coding gene by using homologous recombination in embryonic stem cells. Mice lacking this receptor develop normally and are indistinguishable grossly and histologically as young adults from their littermates. RNA analysis and immunocytochemistry show that tissues from ERbeta -/- mice lack normal ERbeta RNA and protein. Breeding experiments with young, sexually mature females show that they are fertile and exhibit normal sexual behavior, but have fewer and smaller litters than wild-type mice. Superovulation experiments indicate that this reduction in fertility is the result of reduced ovarian efficiency. The mutant females have normal breast development and lactate normally. Young, sexually mature male mice show no overt abnormalities and reproduce normally. Older mutant males display signs of prostate and bladder hyperplasia. Our results indicate that ERbeta is essential for normal ovulation efficiency but is not essential for female or male sexual differentiation, fertility, or lactation. Future experiments are required to determine the role of ERbeta in bone and cardiovascular homeostasis.

Animals↗

Differences in IGFBP-3 regulation between young healthy women from BRCAX families and those belonging to BRCA1/2 families.

Since IGF-1 and IGFBP-3 levels have been implicated in premenopausal breast cancer, we aimed to explore whether there were differences in IGF-1 and IGFBP-3 regulation between women from BRCA1/2 families and from families in which no BRCA1/2 mutations could be detected, that is, from BRCAX families. One hundred and one healthy 18-40-year-old women from hereditary breast cancer families with known BRCA1/2 mutations and 111 women from BRCAX families completed a questionnaire including information on reproductive factors and oral contraceptive use. We measured height, weight, and plasma IGF-1 and IGFBP-3 levels during menstrual cycle days 5-10 and again during cycle days 18-23. IGF1 and IGFBP3 genotypes were determined. Women from BRCAX families had higher IGFBP-3 levels than women from BRCA1/2 families during cycle days 5-10 (P=0.08) and cycle days 18-23 (P=0.0001). The IGFBP3 (A-202C) A allele also segregated at a significantly higher frequency among women from BRCAX families than among women from BRCA1/2 families (40.3 versus 30.3%; P=0.04). The IGFBP3 genotype was highly associated with the IGFBP-3 levels during cycle days 5-10 and 18-23 (Ptrend=0.0004 and Ptrend=0.0003, respectively). After taking the IGFBP3 genotype into account, IGFBP-3 levels were still significantly higher in women from BRCAX families during cycle days 18-23 (P=0.004). No differences were found in IGF1 genotype or IGF-1 levels or the ratio of IGF-1 to IGFBP-3 between women from BRCAX and BRCA1/2 families. In conclusion, we found significant differences in IGFBP-3 regulation between young healthy women from BRCAX families and those belonging to BRCA1/2 families. It is possible that a subgroup of the BRCAX families has an increased risk of breast cancer because of high IGFBP-3 levels.

Adult↗

Growth and reproduction complex in the rat. Genes linked to the major histocompatibility complex that affect development.

The linkage of the major histocompatibility complex (MHC) and the growth and reproduction complex (Grc) in the rat was studied in an F2 hybrid population generated from female BIL/1 (RT1l-Grc) and male YO (RT1u-Grc+) animals: 1.722 offspring were born, and 1,568 were weaned and studied. The body weights of the offspring segregated with the RT1 haplotype of the MHC, and the RT1l homozygotes were significantly smaller than their RT1l/u and RT1u/u littermates. The growth rate of the RT1l/l animals was approximately the same as that of the BIL/1 animals, and both were significantly less than the growth rates of the RT1l/u, RT1u/u, and YO (RT1u) animals. The testes of the RT1l animals showed an arrest of spermatogenesis at the early pachytene stage of the primary spermatocytes, and they were approximately 1/10 as heavy as the testes of the RT1l/u and RT1u/u animals. The ovaries in females of all three haplotypes had the same weight, but there was a decrease in the number of ova released per cycle in the RT1 l/l animals. The major loss of the RT1l homozygotes, which caused distortion of the phenotypic ratios among the offspring, did not occur in utero but in the early postnatal period before weaning. There were 7/1568 recombinants between the MHC, using the RT1.A antigen as the marker, and the Grc, using small body size (dw-3) as the marker, and 1/1568 recombinant between the loci influencing body size (dw-3) and fertility (ft) of the Grc. These data gave the following map distances (95% confidence levels): RT1.A to dw-3, 0.45 (0.25-0.96) centimorgans and dw-3 to ft, 0.07 (0.04-0.40) centimorgans. A female recombinant was used develop an inbred line carrying the RT1.Al-Grc+ chromosome.

Animals↗

Carry-over effects of periparturient endocrine changes on postpartum reproductive function of Holstein heifers bred to genetically different service sires.

Effects of fetal sire on postpartum reproductive changes of the dam were studied in 21 Holstein heifers whose pregnancy had been initiated by either Angus (n = 7), Holstein (n = 7) or Brahman (n = 7) bulls. After parturition, all heifers were managed uniformly. Heifers in each service-sire-breed group were bled via jugular venipuncture thrice weekly from d 160 to 265 of pregnancy, daily thereafter until 15 d postpartum, and three times per week until d 60 postpartum. Ability of heifers to release prolactin (PRL) and luteinizing hormone (LH) was evaluated on d 10 postpartum after a simultaneous injection of thyrotropin releasing hormone (TRH; 100 micrograms) and gonadotropin releasing hormone (GnRH; 100 micrograms). Between d 5 and 60 postpartum, the reproductive tract of each heifer was examined rectally thrice weekly after collection of blood samples. Basal concentrations of LH from d 1 to 10 postpartum, as well as ability of the pituitary gland to release LH and PRL after the GnRH-TRH challenge, did not differ between service-sire-breed groups (P greater than .1). Means and profiles of progesterone concentrations during the first 60 d postpartum did not differ between service-sire-breed groups (P greater than .1). However, increases in progesterone concentrations following the GnRH-TRH challenge were synchronized more precisely in Angus (P less than .02) than in Holstein- and Brahman-service-sire groups. Daily rates of reduction in cervical and uterine horn diameters were higher (P less than .01) in Holstein- and Brahman- than in Angus-service-sire groups and were associated with higher profiles of postpartum 15-keto-13,14-dihydro-prostaglandin F2 alpha (PGFM) concentrations. Within-cow PGFM concentrations were correlated positively with cervical (r = .36) and uterine horn (r = .32) diameters. Postpartum ovarian responsiveness and uterine involution in Holstein heifers may be affected by genotypes of the conceptus they bore during pregnancy.

Animals↗

Genetic variability and drift load in populations of an aquatic snail.

Population genetic theory predicts that in small populations, random genetic drift will fix and accumulate slightly deleterious mutations, resulting in reduced reproductive output. This genetic load due to random drift (i.e., drift load) can increase the extinction risk of small populations. We studied the relationship between genetic variability (indicator of past population size) and reproductive output in eight isolated, natural populations of the hermaphroditic snail Lymnaea stagnalis. In a common laboratory environment, snails from populations with the lowest genetic variability mature slower and have lower fecundity than snails from genetically more variable populations. This result suggests that past small population size has resulted in increased drift load, as predicted. The relationship between genetic variability and reproductive output is independent of the amount of nonrandom mating within populations. However, reproductive output and the current density of snails in the populations were not correlated. Instead, data from the natural populations suggest that trematode parasites may determine, at least in part, population densities of the snails.

Animals↗

Simple sequence repeat (SSR) polymorphisms for colony management and population genetics in rhesus macaques (Macaca mulatta).

Cross-species amplification of 72 SSR (predominantly tetranucleotide) loci from the DNA of six rhesus macaques of diverse regional origins was conducted using human primers for the polymerase chain reaction (PCR). Thirteen of these primer pairs, which consistently and unambiguously amplified polymorphic fragments from these six samples and which exhibited Mendelian properties, were also used to amplify SSR loci for 176 male rhesus macaques that are founders of six different captive breeding colonies. These include four groups of macaques originating in India and one group of macaques each that originated in China and Thailand. Gene diversity based on the SSR loci provided a reliable estimate of average heterozygosity but was between two and four times higher than that for 9 protein coding loci. Based on the SSR loci, Chinese rhesus were more genetically diverse and unique than were rhesus from India or Thailand, a conclusion not consistent with data based on protein coding loci. The six most informative SSR loci are unlinked and provide probabilities of single parent exclusion and genetic identity exceeding 0.99 and one in one million, respectively, both of which are reasonable standards for colony management purposes.

Animals↗

Primate population structure: evaluation of models.

Genetic markers among macaques on Cayo Santiago island were analyzed in an attempt to infer aspects of mating structure. Several models that included high levels of gene flow among groups could not be distinguished, but the data are clearly incompatible with group endogamy and with high variance in male fitness. Drift effective size is approximately one half census size in this population.

Animals↗

Rearrangements of the transposable mating-type cassettes of fission yeast.

The fission yeast, Schizosaccharomyces pombe, switches mating type every few cell divisions. Switching is controlled by the genes of the mating-type locus, which consists of three components, mat1, mat2-P and mat3-M, each separated by approximately 15 kb. Copy transposition of P (Plus) or M (Minus) information from mat2-P or mat3-M into the expression locus mat1 mediates cell type switching. The mating-type locus undergoes events at high frequency (10(-2)-10(-6)) which stabilize one or other mating type. These events are shown to be rearrangements which result in either deletion or insertion of DNA between cassettes.

Ascomycota↗

Clonal diploid sperm of the diploid-triploid mosaic loach, Misgurnus anguillicaudatus (Teleostei:Cobitidae).

The loach Misgurnus anguillicaudatus comprises diploid, triploid and diploid-triploid mosaic individuals in a wild population of the Hokkaido island, Japan. Previous studies revealed the presence of a cryptic clonal lineage among diploid loaches, which is maintained by uniparental reproduction of genetically identical diploid eggs. In the present study, we analyzed distribution and genetic status of diploid and triploid cells in infrequent mosaic males. Flow cytometry, microsatellite genotyping and DNA fingerprinting verified that mosaic males consisted of diploid cells with genotypes identical to the natural clone and triploid cells with diploid genomes of the clonal lineage plus haploid genome from sperm nucleus of the father. Thus, the occurrence of diploid-triploid mosaicism might be caused by accidental fertilization of a diploid blastomere nucleus with haploid sperm after the initiation of clonal development of unreduced eggs. Such mosaic males produced fertile sperm with diploid DNA content. The experimental cross between normal diploid female and diploid-triploid mosaic male gave rise to the appearance of triploid progeny which exhibited two microsatellite alleles identical to the clonal genotype and one allele derived from the normal female. In DNA fingerprinting, such triploid progeny gave not only all the DNA fragments from the clone, but also other fragments from the normal female. Induced androgenesis using UV irradiated eggs and sperm of the mosaic male gave rise to the occurrence of diploid individuals with paternally derived microsatellite genotypes and DNA fingerprints, absolutely identical to the natural clonal lineage. These results conclude that the diploid-triploid mosaic male produced unreduced diploid sperm with genetically identical genotypes. The spermatogenesis in the clonal diploid cells under the mosaic condition suggests that triploid male somatic cells might transform genetically all-female germ cells to differentiate into functionally male gametes. The discovery of the mosaic male producing unreduced sperm suggests the theoretical occurrence of triploids and other polyploids by the syngamy of such paternally derived diploid gametes.

Animals↗