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PubMed2002

The sexually-selected sperm hypothesis: sex-biased inheritance and sexual antagonism.

When females are inseminated by more than one male (polyandry) sexual selection continues after insemination in the form of sperm competition and cryptic female choice. The sexually-selected sperm hypothesis proposes that, under the risk of sperm competition, additive variation in male traits determining fertilising efficiency will select for female propensity to be polyandrous in order to increase the probability of producing sons with superior fertilising efficiency. Two factors complicate this prediction: sex-biased transmission of male fertilising efficiency traits and sexual antagonism of sex-limited traits, fostered by sex-biased inheritance. Here, we (i) review the evidence that male traits contributing towards fertilising efficiency are heritable through sex-biased mechanisms, and (ii) explore the evolutionary implications for male and female reproductive strategies caused by both sex-biased transmission and sexual antagonism of fertilising efficiency traits. Many male fertilising efficiency traits are heritable through sex-biased mechanisms and may not necessarily increase female fitness. The predictions of the sexually-selected sperm hypothesis change dramatically under these different mechanisms of inheritance of fertilising efficiency traits, and different fitness pay-offs derived by females from the expression of such traits. Both sex-biased control of fertilising efficiency and sexual antagonism may also be important in explaining the maintenance of the genetic variance and selection potential of fertilising efficiency. We propose that a useful approach to test the sexually-selected sperm hypothesis is to combine studies which identify behavioural and physiological mechanisms explaining variation in reproductive success with artificial selection experiments to infer the underlying evolutionary patterns.

Animals↗
PubMed1999

Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein.

Transmissible spongiform encephalopathies (TSEs) are caused by a unique infectious agent which appears to be identical with PrPSc, an oligomeric, misfolded isoform of the cellular prion protein, PrPC. All inherited forms of human TSEs, i.e., familial Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia, segregate with specific point mutations or insertions in the gene coding for human PrP. Here we have tested the hypothesis that these mutations destabilize PrPC and thus facilitate its conversion into PrPSc. Eight of the disease-specific amino acid replacements are located in the C-terminal domain of PrPC, PrP(121-231), which constitutes the only part of PrPC with a defined tertiary structure. Introduction of all these replacements into PrP(121-231) yielded variants with the same spectroscopic characteristics as wild-type PrP(121-231) and similar to full-length PrP(23-231), which excludes the possibility that the exchanges a priori induce a PrPSc-like conformation. The thermodynamic stabilities of the variants do not correlate with specific disease phenotypes. Five of the amino acid replacements destabilize PrP(121-231), but the other variants have the same stability as the wild-type protein. These data suggest that destabilization of PrPC is neither a general mechanism underlying the formation of PrPSc nor the basis of disease phenotypes in inherited human TSEs.

Amino Acid Substitution↗
PubMed2000

Inheritance of pendulum movements in rats.

The stereotyped hyperkinesis referred to as pendulum movements (PM) may be found in up to 50% of the animals in stocks of Wistar rats. The mode of inheritance of predisposition to PM was studied by two methods: 1) a classical Mendelian analysis of hybrids of the strains PM+ and PM- bred from Wistar stock for enhancement and absence of PM, respectively, and 2) a segregation analysis of pedigree data from the archive records of breeding the cataleptic GC strain. The two methods gave the same result: the inheritance of predisposition to PM can be explained by a major gene model with an incomplete penetrance of heterozygous genotype.

Animals↗
PubMed1999

Unusual inheritance of evolutionarily-related double-stranded RNAs in interspecific hybrid between rice plants Oryza sativa and Oryza rufipogon.

Endogenous, 14 kb double-stranded RNAs (dsRNAs) have been found in two ecospecies of cultivated rice (temperate japonica rice and tropical japonica rice, Oryza sativa L.) and in wild rice (O. rufipogon, an ancestor of O. sativa). A comparison of the nucleotide and deduced amino acid sequences of the core regions of the RNA-dependent RNA polymerase domains found in these three dsRNAs suggested that these dsRNAs probably evolved independently within each host plant from a common ancestor. These dsRNAs were introduced into F1 hybrids by crossing cultivated rice and wild rice. Unusual cytoplasmic inheritance of these dsRNAs was observed in some F1 hybrids; the evolutionarily related dsRNAs were incompatible for each other, and the resident dsRNA of an egg cell from cultivated rice was excluded by the incoming dsRNA of a pollen cell from wild rice. Coexisting dsRNAs in the F1 hybrids segregated away from each other in the F2 plants. However, the total amount of these dsRNAs in the host cells remained constant (ca. 100 copies/cell). The stringent regulation of the dsRNA copy number may be responsible for their unusual inheritance.

Base Sequence↗
PubMed2000

Maternally inherited X chromosome is not inactivated in mouse blastocysts due to parental imprinting.

Mouse embryos having an additional maternally inherited X chromosome (X(M)) invariably die before midgestation with the deficient extraembryonic ectoderm of the polar trophectoderm lineage, whereas postnatal mice having an additional paternally inherited X chromosome (X(P)) survive beyond parturition. A cytogenetic study led us to hypothesize that abnormal development of such embryos disomic for X(M) (DsX(M)) is attributable to two doses of active X(M) chromosome in extraembryonic tissues. To test the validity of this hypothesis, we examined the initial X chromosome inactivation pattern in embryos at the blastocyst stage by means of replication banding method as well as RNA FISH detecting Xist transcripts. X(P) was the only asynchronously replicating X chromosome, if any, in X(M)X(M)X(P) blastocysts, and no such allocyclic X chromosome was ever detected in X(M)X(M)Y blastocysts. In agreement with these findings, only one Xist paint signal was detected in 79% of X(M)X(M)X(P) cells, whereas no such signal was found in X(M)X(M)Y embryos. Thus, the present study supports the hypothesis that two X chromosomes remaining active in the extraembryonic cell lineages due to the maternal imprinting explain the underdevelopment of extraembryonic structures and hence early postimplantation death of DsX(M) embryos.

Aneuploidy↗
PubMed2001

Prenatal diagnosis for inherited deafness--what is the potential demand?

Genetic testing for inherited deafness is now available within some genetics centres. This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and hearing individuals toward PND and termination of pregnancy (TOP) for hearing status. Participants were self-selected from the whole of the UK, of whom 644 were deaf, 143 were hard of hearing or deafened, and 527 were hearing individuals who had either a deaf parent or child. The results showed that 21% of deaf, 39% of hard of hearing and deafened, and 49% of hearing participants said they would consider PND for deafness. Six percent of deaf, 11% of hard of hearing and deafened, and 16% of hearing participants said they would consider a TOP if the fetus was found to be deaf. Two percent of deaf participants said they would prefer to have deaf children and would consider a TOP if the fetus was found to be hearing.

Abortion, Eugenic↗
PubMed1998

The genetics of inherited breast cancer.

The isolation of BRCA1 and BRCA2 has greatly increased our understanding of the genetics of inherited breast and ovarian cancer although the functions of these genes are not yet fully understood. We will discuss the current state of knowledge about the function of BRCA1 and BRCA2 and summarize the cancer risks in women carrying a BRCA1 or BRCA2 mutation. We review the evidence for gene-gene and gene-environment interaction in modifying that risk, and discuss the contribution of BRCA1 and BRCA2 and other high penetrance genes to both inherited and sporadic breast cancer.

BRCA1 Protein↗
PubMed2003

Aceruloplasminemia, an inherited disorder of iron metabolism.

Ceruloplasmin, a multi-copper ferroxidase that affects the distribution of tissue iron, has antioxidant effects through the oxidation of ferrous iron to ferric iron. Aceruloplasminemia is an inherited disorder of iron metabolism due to the complete lack of ceruloplasmin ferroxidase activity caused by mutations in the ceruloplasmin gene. It is characterized by iron accumulation in the brain as well as visceral organs. Clinically, the disease consists of the triad of retinal degeneration, diabetes mellitus, and neurological disease, which include ataxia, involuntary movements, and dementia. These symptoms reflect the sites of iron deposition. The unique involvement of the central nervous system distinguishes aceruloplasminemia from other inherited and acquired iron storage disorders. Twenty-one mutations in the ceruloplasmin gene have been reported in 24 families worldwide. In Japan, the incidence was estimated to be approximately one per 2,000,000 in the case of non-consanguineous marriages. Excess iron functions as a potent catalyst of biologic oxidation. Previously we showed that an increased iron concentration is associated with increased levels of lipid peroxidation in the serum, cerebrospinal fluid, and erythrocyte membranes. The levels of malondialdehyde and 4-hydroxynonenals, indicators of lipid peroxidation, were also elevated in the basal ganglia and cerebral cortex. Positron emission tomography showed diminished brain metabolism of glucose and oxygen. Enzyme activities in the mitochondrial respiratory chain of the basal ganglia were reduced to approximate 45% and 42%, respectively, for complexes I and IV. These findings suggest that iron-mediated free radicals causes neuronal cell damage through lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains.

Aged↗
PubMed1997

Inheritance of hypoxic exercise tolerance in mice.

All mammals tested, when exposed acutely to a degree of hypoxia above some threshold, exhibit a reduced capacity to perform work. Chronic hypoxic exposure is usually associated with some degree of acclimation resulting in partial recovery of the preexposure work capacity. The present study reports that, among mice, interindividual variability in recovery of ability to tolerate a standardized hypoxic exercise [t(et); time elapsed in treadmill exercise in hypoxia until 4-s failure to avoid a grid configured to deliver a mild aversive current (0.15 mA)], after 8 weeks' exposure to half-atmospheric pressure, is influenced predominantly by two unlinked genes of major effect. Two approaches were taken toward genetic characterization. In one, a maximum-likelihood procedure was applied to 11 models of genetic determinacy in the t(et) distributions of BALB/cBy (C) and C57BL/6By (B6) parental inbred strains, their F1 hybrid, and the backcross (BC) generations. Breeding tests of the resulting candidate "best-fit" major locus inheritance models involved repeated cycles of selecting, as the progenitor of a new BC generation, the male with the highest value of the test variable in the previous BC generation, and breeding him to C females. Mice from each of four distinct phenotypes appearing in BC3 were bred to C mice, producing distributions expected from two-locus segregation. The second approach was based upon CXB/By RI strain distribution pattern and derivative breeding tests to reveal phenotypic distributions consistent with two-locus inheritance of tet. Melding these results with a positional cloning strategy may permit relating a behavioral difference to specific heritable elements and identifying their products as the (partial) physiological substrata of the behavior.

Animals↗
PubMed2003

Inherited predisposition to prostate cancer.

A genetic component in prostate cancer has been recognized for decades. Through numerous epidemiological and molecular biological studies much evidence has accumulated in favor of a significant but heterogeneous hereditary component in prostate cancer (PCa) susceptibility. At first, segregation analyses supported the view that a number of high-risk loci contributed to the observed Mendelian inheritance of PCa. Consequent mapping efforts yielded several susceptibility loci across the genome. At three of these loci genes have been cloned and mutations identified. Their role in hereditary and sporadic disease, however, is still under debate and probably very modest. The current evidence supports the hypothesis that excess familial risk of PCa is due to the inheritance of multiple moderate-risk genetic variants. Although research on hereditary prostate cancer has improved our knowledge of the genetic etiology of the disease, a lot of questions still remain unanswered. Here, we aim to review the genetic epidemiological research and the mapping efforts in the field of hereditary PCa and the consequent problems that are encountered.

Genetic Linkage↗
PubMed2003

Co-inheritance of specific genotypes of HSPG and ApoE gene increases risk of type 2 diabetic nephropathy.

The objective of this paper is to investigate co-inheritance of specific HSPG and ApoE genotypes in the development of Chinese type 2 diabetic nephropathy. PCR-RFLP was used to detect HSPG and ApoE genotypes in 385 Chinese subjects including 298 patients with type 2 diabetes mellitus (T2DM) and 87 non-diabetic controls (Non-DM). The T2DM group was subdivided into patients with (TDN; n = 218) and without diabetic nephropathy (Non-DN; n = 80). The latter group was further subdivided into groups of patients with microalbuminuria nephropathy (DN-1; n = 129) and severe diabetic nephropathy (DN-2; n = 89). We then compared the relative frequencies of various HSPG and ApoE genotypes and alleles among the groups, searching for predictive trends. The T allele of the HSPG gene occurred more frequently in the DN-2 group than in the Non-DN or DN-1 groups, their Fisher's exact p was 1.05 x 10(-3) and 6.58 x 10(-6); odds ratios were 2.09 (95% CI 1.32-3.30) and 2.48 (95% CI 1.64-3.74), respectively. The E2 allele of the ApoE gene occurred more frequently in the T2DM than in the Non-DM group, the Fisher's exact p was 0.0087; odds ratio was 3.45 (95% CI 1.30-9.81). Genotype analysis showed that the TT or TG of HSPG gene were paired with the E2/2 or E2/3 of ApoE gene significantly more frequently in the TDN group than in the Non-DN group, with an odds ratio of 3.03 (95% CI 1.03-8.90). There was no significant differences in other combinations of genotypes in HSPG and ApoE genes between TDN and Non-DN group. These results suggest that the HSPG T allele is a risk factor for the development of severe diabetic nephropathy in type 2 diabetic patients, and that the ApoE E2 allele is a risk factor for the occurrence of type 2 diabetes mellitus in Chinese general population. In addition, we find that co-inheritance of T/E2 confers a higher risk of type 2 diabetes mellitus progression to diabetic nephropathy in Chinese.

Aged↗
PubMed2003

Inheritance of resistance to flumethrin in the Mexican Aldama strain of the cattle tick Boophilus microplus (Acari: Ixodidae).

The objective of this study was to evaluate the inheritance mode of resistance to flumethrin in the Mexican Aldama Boophilus microplus strain. Two Mexican strains were used, the Chiapas susceptible (SS), and the Aldama flumethrin-resistant from Tamaulipas. Six steers weighing ca. 250 kg were randomly assigned for each of six crosses: the susceptible (SS), resistant (RR), and the F1 (RS, SR) reciprocal crosses and F2 (RS x RS and SR x SR). The reciprocal crosses were made to evaluate maternal and sex linkage effects. Bioassays tested resistant and susceptible larvae along with their hybrid F1 and F2 progeny against a series of concentrations of flumethrin (0, 0.0075, 0.00150, 0.00300, 0.00600 and 0.01200 microg/g). To test the single-gene hypothesis of resistance, a nonparametric line-cross test proposed by Collins was used. The bioassay data were subjected to probit analysis and the resistance factor and effective dominance obtained. Results of this study indicated that inheritance for flumethrin resistance in the Aldama strain was autosomal and controlled for more than one gene. The F1 and F2 larvae had similar lower resistant factor (RF 2.8-4.5) while the resistant Aldama strain was 21-fold higher (RF 81.8) than the mean of the F1 and F2. The extent of flumethrin resistance in the Aldama B. microplus strain depended upon the concentration of the pesticide used. Resistance was almost dominant at the lowest dose while almost completely recessive at the highest dose. Maternal effects were shown for egg-mass. These results shown here indicate more than one gene basis of flumethrin resistance in B. microplus ticks are present. Therefore it is necessary to locate and understand the major loci for elucidate the mechanism of resistance and improve the ability to track and delay the evolution of resistance.

Animals↗
PubMed2002

[Inherited and acquired disorders of mitochondrial DNA].

Human mitochondrial DNA (mtDNA) resides in thousands of copies in each cell and encodes for 13 structural proteins which are subunits of the respiratory chain. Point mutations, deletions, and decreased copy-number (mtDNA-depletion) are now functionally and genetically linked to human disease. Although mtDNA is inherited maternally, some mutations may arise spontaneously and others are inherited in a mendelian fashion, which is attributed to defective nuclear genes. MtDNA-mutations are also associated with aging and with tumors but in these conditions probably not of functional significance. Mutations of mtDNA may be acquired by exposure to toxic substances (such as alcohol or doxorubicin). An acquired copy number defect (mtDNA-depletion) is dose-limiting for some antiviral nucleosides and nucleotide analogues. The internist encounters predominantly myopathies, cardiomyopathies, lactic acidosis or diabetes mellitus but mtDNA-changes also lead to neurological, hematological and renal symptoms. A syndrome of fat redistribution, termed lipodystrophy, is now observed with long-term therapy of HIV-patients and has been associated with mtDNA-depletion. Therapy with vitamins, radical scavengers and L-carnitine is recommended, but of limited success.

Adolescent↗
PubMed1999

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia.

Familial hypercholesterolaemia (FH) is caused by mutations in the low-density lipoprotein (LDL)-receptor gene that result in impaired clearance of plasma LDL and increased risk of coronary heart disease. Numerous different mutations have been found in FH patients worldwide, the majority of which are infrequent in out-bred populations and account for 2% or less of patients with the disorder in large cohorts. Thus, it was surprising to find that two homozygous FH patients referred to a single hospital in the UK were both apparently homozygous for the Pro664Leu mutation. One, an Asian patient, was a true homozygote. The other, of English origin, had inherited two different alleles of the LDL-receptor gene with the same mutation from unrelated parents, as inferred from the haplotype of polymorphic markers. A third, clinically homozygous FH patient, despite being the offspring of first cousins, had inherited one 'Asian' Pro664Leu allele, but an allele with a 1-bp deletion in exon 5 from the other parent. The Pro664Leu mutation in the LDL-receptor gene has now been described in heterozygous patients of very different ethnic origin and is associated with different haplotypes, suggesting that the same base change at a CpG may have recurred as many as six times.

Alleles↗
PubMed2002

Inherited disorders of cholesterol biosynthesis.

For many decades, cholesterol has been considered an important structural component of cellular membranes and myelin, and a precursor of steroid hormones and bile acids. Moreover, the recognition that high cholesterol levels (hypercholesterolemia) are a major risk factor for the development of heart disease and atherosclerosis has gained enormous attention not only in medicine, medical and pharmacological research, but also from the general public. The discovery of a crucial role of cholesterol in human embryogenesis and the recent identification of a number of inherited disorders of cholesterol biosynthesis also show that low cholesterol levels (hypocholesterolemia) may have severe consequences for human health and development. In the past few years, seven distinct inherited disorders have been linked to different enzyme defects in the cholesterol biosynthetic pathway by the finding of abnormally increased levels of intermediate metabolites in patients followed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities.

Abnormalities, Multiple↗
PubMed2002

Endosperm-specific expression of green fluorescent protein driven by the hordein promoter is stably inherited in transgenic barley (Hordeum vulgare) plants.

The expression of green fluorescent protein (GFP) and its inheritance were studied in transgenic barley (Hordeum vulgare L.) plants transformed with a synthetic green fluorescent protein gene [sgfp(S65T)] driven by either a rice actin promoter or a barley endosperm-specific d-hordein promoter. The gene encoding phosphinothricin acetyltransferase (bar), driven by the maize ubiquitin promoter and intron, was used as a selectable marker to identify transgenic tissues. Strong GFP expression driven by the rice actin promoter was observed in callus cells and in a variety of tissues of T0 plants transformed with the sgfp(S65T)-containing construct. GFP expression, driven by the rice actin promoter, was observed in 14 out of 17 independent regenerable transgenic callus lines; however, expression was gradually lost in T0 and later generation progeny of diploid lines. Stable GFP expression was observed in T2 progeny from only 6 out of the 14 (43%) independent GFP-expressing callus lines. Four of the 8 lines not expressing GFP in T2 progeny, lost GFP expression during T0 plant regeneration from calli; one lost GFP expression in the transition from the T0 to T1 generations and three lines were sterile. Similarly, expression of bar driven by the maize ubiquitin promoter was lost in T1 progeny; only 21 out of 26 (81%) independent lines were Basta-resistant. In contrast to actin-driven expression, GFP expression driven by the d-hordein promoter exhibited endosperm-specificity. All seven lines transformed with d-hordein-driven GFP (100%) expressed GFP in the T1 and T2 generations, regardless of ploidy levels, and expression segregated in a Mendelian fashion. We conclude that the sgfp(S65T) gene was successfully transformed into barley and that GFP expression driven by the d-hordein promoter was more stable in its inheritance pattern in T1 and T2 progeny than that driven by the rice actin promoter or the bar gene driven by the maize ubiquitin promoter.

Journal Article↗
PubMed2000

Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy.

We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked in the other. Slight but definite atrophy of the corpus callosum and axonal neuropathy were demonstrated in 1 sibling who underwent detailed investigation. Review of similar cases reported in the literature indicates that this recessively inherited disorder probably represents a homogeneous group within the heterogeneous cluster of complicated FSP.

Adult↗
PubMed2002

The fetal origins hypothesis: placental insufficiency and inheritance versus maternal malnutrition in well-nourished populations.

The 'Fetal origins hypothesis' states that individuals born small because of malnutrition are predisposed to adult diseases. Fetal malnutrition has two main causes, poor maternal nutrition and placental insufficiency. A distinction between these causes is important because it is likely that maternal nutrition has been sufficient in the majority of populations in which the fetal origins hypothesis has been tested. Thus, placental insufficiency is a more reasonable cause of reduced fetal growth in adequately nourished populations. Placental insufficiency is mainly due to inadequate vascular adaptation at the uteroplacental interface ('poor placentation'). Among women with placental insufficiency syndromes such as pre-eclampsia and 'idiopathic' intrauterine growth retardation, there is an increased prevalence of risk factors for cardiovascular diseases. Maternal cardiovascular risk factors may therefore increase the risk of adult diseases in the offspring both through direct inheritance and by interfering with uteroplacental vascular adaptation. The latter may result in placental insufficiency and fetal growth retardation that by itself could cause adult disease (as the Fetal origins hypothesis states). Alternatively, the association between low birth weight for gestational and adult disease could be an epiphenomenon, leaving inheritance as the main explanation for the fetal origins hypothesis, in adequately nourished populations.

Birth Weight↗