Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “inheritance”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 433 records · Page 24Linked to original sources
PubMed2005

Epigenetic inheritance and the intergenerational transfer of experience.

Currently, behavioral development is thought to result from the interplay among genetic inheritance, congenital characteristics, cultural contexts, and parental practices as they directly impact the individual. Evolutionary ecology points to another contributor, epigenetic inheritance, the transmission to offspring of parental phenotypic responses to environmental challenges-even when the young do not experience the challenges themselves. Genetic inheritance is not altered, gene expression is. Organismic pathways for such transmission exist. Maternal stress during the latter half of a daughter's gestation may affect not only the daughter's but also grand-offspring's physical growth. The author argues that temperamental variation may be influenced in the same way. Implications for theory and research design are presented along with testable predictions.

Animals↗
PubMed2005

Maternal inheritance in cyclic vomiting syndrome.

Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a fairly common, disabling, predominately-childhood condition most often associated with migraine and dysautonomic features. Our group recently reported that children with CVS and additional neuromuscular disease manifestations demonstrate strong maternal inheritance of multiple disease manifestations and abnormal urine organic acids, suggesting the presence of predisposing mitochondrial DNA (mtDNA) sequence variants. In order to determine if maternal inheritance is present in CVS in general, a clinical interview was administered regarding 80 unrelated individuals with CVS ascertained randomly from the database of the Cyclic Vomiting Syndrome Association (CVSA). Disease manifestations consistent with potential mitochondrial dysfunction were far more common in matrilineal (sharing the same mtDNA sequence) versus in non-matrilineal relatives, including mothers versus fathers (P = 3 x 10(-9)) and maternal versus paternal grandmothers (P = 2 x 10(-6)). Maternal inheritance is suggested in 52% of the 23 subjects with two or more neuromuscular abnormalities ("CVS+") and in 54% of the 44 subjects without any neuromuscular abnormalities ("CVS-"). In both the CVS+ and CVS- sub-groups, subjects, and affected matrilineal relatives of all ages suffer at a far higher incidence from several dysautonomic-related conditions, including migraine and irritable bowel, as well as depression and hypothyroidism, while neuromuscular and cognitive disorders such as hypotonia and ADHD are common only in affected children. We conclude that mtDNA sequences predispose towards the development of protean disease manifestations in CVS patients ascertained through a disease-specific association, as well as among their matrilineal relatives, whether or not neuromuscular disease is present in the proband. Since CVS was absent in all but one matrilineal relative of our probands, CVS is apparently a rare clinical presentation in individuals carrying the predisposing mtDNA sequences. The four conditions reported most frequently among the matrilineal relatives of our cases, migraine, depression, irritable bowel, and hypothyroidism, are known to segregate together in families, and our findings suggest that a common predisposing genetic factor is likely present on the mtDNA.

DNA, Mitochondrial↗
PubMed2005

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.

It has been hypothesized that two mutations in one gene are not sufficient and that three mutations between two genes are required for penetrance in some cases of Bardet-Biedl syndrome (the so-called "triallelic inheritance" model). McKusick-Kaufman syndrome (MKS) is allelic to one form of Bardet-Biedl syndrome (BBS). We describe an Amish family with MKS, where three children were affected with homozygous MKKS (BBS6) mutations (H84Y and A242S on both alleles), their father was a carrier, and their mother was homozygous for the same MKKS mutations, but she was non-penetrant. Genotyping and/or sequencing of BBS1, BBS2, BBS3, BBS4, BBS5, BBS7, and BBS8 excluded "triallelic inheritance" for each gene either by an incompatible inheritance pattern or an absence of mutations in the coding region and the intronic splice junctions of these genes. We conclude that the "triallelic" model does not explain the incomplete penetrance of MKS.

Abnormalities, Multiple↗
PubMed2005

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly. A tentative diagnosis of JBS was made, and autosomal recessive inheritance considered most likely. In a subsequent pregnancy that occurred after artificial donor insemination, ultrasound in the 22nd week revealed a Dandy-Walker malformation and hydrocephaly. At autopsy at 34 weeks of gestation, the male infant showed cerebellar vermis aplasia and abnormalities of the brainstem and cerebral cortex. He was considered to have the same disorder as his two half-brothers. This renders the pedigree highly suggestive of X-linked inheritance. The clinical symptoms of this syndrome resemble JBS. However, the absence of the molar tooth sign and the X-linked inheritance do not support JBS. We propose the name X-linked cerebral-cerebellar-coloboma syndrome to distinguish the two disorders. Differentiation of the two disorders is especially important in genetic counseling, where artificial donor insemination may be considered as a means of reducing the recurrence risk, or when female relatives of the patient are concerned.

Abnormalities, Multiple↗
PubMed2005

Familial risks for colorectal cancer show evidence on recessive inheritance.

Recent molecular genetic data have become available on a recessive inheritance in colorectal cancer (CRC). We wanted to search for evidence for recessive inheritance from a population-based family data set, which is not sensitive to reporting or ascertainment bias. The nationwide Swedish Family-Cancer Database covered 10.3 million individuals whose invasive CRCs of adenocarcinoma histology were followed from 1991 to 2000. Age of the offspring and parental populations was limited to less than 69 years. Standardized incidence ratios (SIRs) were calculated for site-specific CRC in offspring whose parents or siblings were diagnosed with CRC. A total of 6,774 offspring were recorded with CRC, whose risk was 2.13 when a parent was diagnosed with CRC and it was 2.75 when a sibling was affected. The SIRs for right-sided colon cancer were 7.53 among siblings and 3.66 among offspring of affected parents, giving a 1.8-fold excess familial risk among siblings. Colon cancer among the 0- to 68-year-old population accounted for about 25% of all colon cancers. Examination of all cancers in family members of the affected siblings did not reveal large contribution by known syndromes, such as hereditary nonpolyposis colorectal cancer. The most likely explanation to the high risk of right-sided colon cancer among siblings is a recessive inheritance, which would account for 0.75% of all CRCs. Its high prevalence and predilection to right-sided colon suggest that only a small proportion of this familial aggregation could be due to MYH mutations.

Adolescent↗
PubMed2006

Multilocus inheritance determines predisposition to alpha-radiation induced bone tumourigenesis in mice.

In a recent study, we presented evidence for genetic predisposition governing radiation osteosarcomagenesis in mice. Following the incorporation of the bone-seeking alpha emitter 227Th, approximately 25% of the variance in osteosarcoma incidence was determined by inherited genetic factors. We have now mapped 5 susceptibility loci in crosses between the more susceptible BALB/c and the more resistant CBA/Ca strains. The major QTL on chromosome 14 overlaps with a locus that was already found in our previous study, using different strains of mice. Here, we investigate the effect by which the major susceptibility locus and 4 minor modifier loci interact to influence osteosarcoma predisposition. Following incorporation of the bone-seeking isotope, 100% of mice that harbour high-risk genotypes at all 5 susceptibility loci develop osteosarcoma with an average of 472 days latency times. In 10 mice inheriting exclusively low-risk genotypes only 1 osteosarcoma was found, arising after 733 days latency time. Inheritance of distinct combinations of BALB/c and CBA/Ca alleles at the susceptibility loci confer more extreme phenotypes in terms of susceptibility or resistance than observed in either of the two parental inbred strains. From the present study, we demonstrate that additive effects of multiple alleles, each making only a minor phenotypic contribution, can combine and significantly alter tumour risk. This mechanism can be of particular importance in genetically heterogeneous populations such as man.

Alpha Particles↗
PubMed2006

Dual inheritance.

Genetic inheritance in higher organisms normally refers to the transmission of information from one generation to the next. Nevertheless, there is also inheritance in somatic cells, characterised by the phenotypic stability of differentiated cells that divide (such as fibroblasts and lymphocytes), and also mitosis of stem line cells, which gives rise to another stem line daughter cell, and one that will differentiate. Thus, there is a dual inheritance systems in these organisms, one of which is genetic and the other epigenetic. In the latter, heritable information is superimposed on DNA sequences, and one well-known mechanism is heritable methylation of cytosine. Much information will come from the human epigenome project that will reveal the patterns of DNA methylation in distinct differentiated cells. There have also been innumerable studies on the abnormal de novo methylation and silencing of tumour suppressor genes in cancer cells.

Animals↗
PubMed1996

Sex-biased heteroplasmy and mitochondrial DNA inheritance in the mussel Mytilus galloprovincialis Lmk.

An exceptional mode of mtDNA inheritance involving separate maternal and paternal transmission routes has been reported recently in the mussel Mytilus edulis. This mode of inheritance provides an explanation for the high levels of heteroplasmy for two highly diverged genomes observed in males of this species. Here we provide evidence for a similar pattern of heteroplasmy in Atlantic and Mediterranean forms of the related mussel M. galloprovincialis. The results support the hypothesis that this mode of mtDNA inheritance has an ancient origin. In addition, the detection of some heteroplasmic females suggests preferential, rather than exclusive, transmission within male and female lines of descent. We also present evidence that the two highly diverged genomes display a parallel split between the Atlantic and Mediterranean forms, consistent with neutral evolution.

Animals↗
PubMed2006

Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees.

Sequence analysis of the human mitochondrial genome (mtDNA) has proven to be a valuable tool in forensic identity testing and the analysis of crime scene stains. In contrast to the very expensive sequencing technique, typing of different length variants can greatly facilitate screening of a large number of traces for their relevance during casework. Within the mitochondrial control region, a dinucleotide (CA)( n ) repeat locus is present. To assess the discrimination power of this marker, we have determined (CA)( n ) allele distribution and the frequency of heteroplasmy in a population sample of 2,458 Germans. The inclination to develop heteroplasmic mixtures (CA)( n )/(CA)( n-1) was positively correlated with the number of CA repeats in the mtDNA. In addition, we have studied the inheritance patterns of (CA)( n ) repeat sequence heteroplasmy in two pedigrees. In one pedigree, we also found a length heteroplasmy in the homopolymeric C-tract (nt 303-309). Our data show stable inheritance of heteroplasmy within the homopolymeric C-stretch, but rather unstable inheritance regarding the (CA)( n ) repeat locus.

DNA, Mitochondrial↗
PubMed1987

Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens.

A review of 8 studies involving 3,996 offspring of parents who have congenital heart disease revealed that the risk for all defects was substantially higher if the affected parent was the mother rather than the father. The risk ratio ranged from a high of 6.39 for aortic stenosis to a low of 1.48 for patent ductus arteriosus, and the ratio was statistically significant in aortic stenosis (p = 0.025) and ventricular septal defect (p less than 0.001). Despite the relatively large number of cases, there were still too few patients to reveal statistical significance for a malformation such as atrioventricular canal, in which there were 5 affected offspring among 36 children of mothers who had atrioventricular canal and no affected children among 16 offspring of affected fathers (p = 0.12). The possible reasons for the preponderance of affected offspring of mothers with a congenital heart disease was studied in the context of various modes of inheritance and maternal physiology. The preliminary conclusion is that although many familial cases of congenital heart disease are compatible with multifactorial inheritance and vulnerability to teratogens, an important subset of cases, particularly in some high-risk families, may be better explained by cytoplasmic inheritance than by multifactorial or mendelian modes. Current genetic counseling should take into account the differences in risk to offspring of affected mothers while confirmation and further investigation proceeds.

Abnormalities, Drug-Induced↗
PubMed2025

The role of iPSC research for insight into inherited arrhythmia conditions.

Human induced pluripotent stem cells (iPSCs) have emerged as a transformative platform for modeling inherited cardiac arrhythmia syndromes and uncovering human-specific disease mechanisms. However, the promise of iPSC-derived cardiomyocytes lies beyond the recapitulation of arrhythmogenic phenotypes and channelopathies. In this review, we explore recent works which have enabled mechanistic interrogation and therapeutic insight for inherited arrhythmia syndromes, beyond the capabilities of traditional animal models. Such studies have leveraged iPSCs to elucidate the role of splice variants, transcriptional regulation, and mitochondrial stress in arrhythmogenesis. Further, iPSC systems have proven important for reclassifying variants of uncertain significance and in modeling idiopathic arrhythmias where genotype-phenotype links are elusive. Advances in directed differentiation now permit chamber-specific cardiac cell generation, allowing for atrial and ventricular disease modeling and revealing critical cell-cell interactions. iPSCs also serve as high-fidelity precursor platforms for drug testing, offering predictive insight into mutation-specific responses to pharmacologic and genetic therapies. Though limitations in maturation and scalability persist, ongoing efforts for integration with tissue engineering, multi-cellular models, and computational frameworks are evolving to improve model reliability. iPSC-based systems now occupy a critical role in arrhythmia research, bridging basic discovery with translational applications, thereby contributing to personalizing care and advancing therapeutics in inherited and idiopathic arrhythmic syndromes.

Humans↗
PubMed2005

Patterns of inheritance in familial prune belly syndrome.

We present a case of familial prune belly syndrome and review potential modes of inheritance for the syndrome. A total of 11 cases of familial prune belly syndrome have been reported. These cases were reviewed and possible modes of inheritance were determined for each case. Our review strongly suggests a sex-influenced autosomal recessive mode of inheritance.

Female↗
PubMed1990

Models of a dual inheritance system.

In higher plants, animals and fungi, there are two inheritance systems: the familiar system, depending on DNA sequence, used in transmitting information between sexual generations, and an epigenetic inheritance system, depending on gene activation, responsible for the transmission of states of differentiation during development. Occasionally, epigenetic changes are transmitted in sexual reproduction. A formal model of such a dual inheritance system is presented, and it is shown how the separation between the two systems can sometimes break down. The evolutionary significance of such breakdowns is discussed.

Animals↗
PubMed2006

Inheritance analysis of herbicide-resistant transgenic soybean lines.

Four transgenic soybean lines generated via Agrobacterium-mediated transformation were used to analyze inheritance of the transgenes. Seed chip GUS assay and herbicide leaf painting and spraying assays were applied to test the gus reporter gene and the herbicide resistant bar selectable marker gene, respectively. Three of the four transgenic soybean lines were stably inherited in a Mendelian fashion with co-segregation of both transgenes in a 3:1 segregation ratio in the T(1) progeny, indicating that both transgenes were integrated into the same locus of the soybean genome. Homozygous transgenic progeny plants were obtained in the T(2) generation of these lines, and the transgenes were inherited in five successive generations. However, in one transgenic line, all the T(1) progeny plants showed GUS negative and herbicide sensitive. Southern blotting analysis confirmed that the transgenes were passed into the T(1) progeny, indicating that the transgenes were both silenced. To test if the transgene silencing was due to transcriptional or post-transcriptional level, Soybean mosaic virus (SMV) was inoculated on leaf tissues of the T(1) plants to test possible reverse effects on transgene silencing. Infection with SMV did not suppress transgene silencing, suggesting that transgene silencing in this transgenic line may not be due to post-transcriptional gene silencing.

Gene Silencing↗
PubMed1996

Nuptiality and family reproduction in male-inheritance systems: reflections on the example of the Franche-Comte (seventeenth-eighteenth centuries).

"The family system practiced in the rural Franche-Comte [France] until the nineteenth century was based on egalitarian inheritance among sons and on the exclusion of daughters; as such, it was associated with distinct Malthusian nuptiality. This system cannot be understood without an examination of the formation and dynamics of a type of family that included frequent stages of undivided patrimony and coresidence in a context giving little encouragement to neolocal marriage and to the independence of sons. A comparative perspective suggests certain similarities with the stem family system, despite differences in inheritance norms.... Acceptance of the common idea of a contrast between impartible and partible inheritance should be highly qualified, insofar as partibility can hide various patterns of social reproduction. Different kinds of joint family household systems must be distinguished carefully, for they have neither the same significance nor imply the same demographic patterns."

Demography↗
PubMed2001

Evolutionary genetics. Clonal inheritance of avian mitochondrial DNA.

We have taken a new approach to test the commonly accepted, but recently questioned, principle of clonal inheritance of vertebrate mitochondrial DNA (mtDNA) by relating its inheritance to a female-specific marker of nuclear DNA. Whereas this is impossible in organisms with male heterogamy (such as mammals), we show here that genealogies of mtDNA and the female-specific W chromosome of a bird species are completely concordant. Our results indicate that inheritance of mtDNA is free of detectable recombination effects over an evolutionary timescale.

Animals↗
PubMed2002

Asymmetric inheritance of centrosomally localized mRNAs during embryonic cleavages.

During development, different cell fates are generated by cell-cell interactions or by the asymmetric distribution of patterning molecules. Asymmetric inheritance is known to occur either through directed transport along actin microfilaments into one daughter cell or through capture of determinants by a region of the cortex inherited by one daughter. Here we report a third mechanism of asymmetric inheritance in a mollusc embryo. Different messenger RNAs associate with centrosomes in different cells and are subsequently distributed asymmetrically during division. The segregated mRNAs are diffusely distributed in the cytoplasm and then localize, in a microtubule-dependent manner, to the pericentriolar matrix. During division, they dissociate from the core mitotic centrosome and move by means of actin filaments to the presumptive animal daughter cell cortex. In experimental cells with two interphase centrosomes, mRNAs accumulate on the correct centrosome, indicating that differences between centrosomes control mRNA targeting. Blocking the accumulation of mRNAs on the centrosome shows that this event is required for subsequent cortical localization. These events produce a complex pattern of mRNA localization, in which different messages distinguish groups of cells with the same birth order rank and similar developmental potentials.

Animals↗
PubMed2005

Estimation of allele frequencies in polyploids under certain patterns of inheritance.

Allele frequencies have long been studied by biologists interested in evolution and speciation. More recently, with the application of molecular markers in human DNA profiling we have also seen the need for reliable population allele frequency estimates for making probabilistic inferences. There is now interest in applying the same DNA profiling technology to identification of plant varieties. HortResearch maintains a large germplasm of horticultural plant species. It is becoming evident that accurate identification of these accessions through DNA fingerprinting is essential for effective utilisation and maintenance of this germplasm. Microsatellites are the markers of choice for this fingerprinting. However, such markers do not reveal the dosage of alleles in a polyploid. Polyploidy is common amongst horticultural plants. Estimating allele frequencies in a polyploid population is, therefore, complicated because of some marker genotypes being phenotypically indistinguishable. For example, in a tetraploid, with four alleles at a locus showing polysomic inheritance, although 35 genotypes are possible, these will fall into only 15 marker phenotypic classes. Furthermore 'null' individuals are rarely detected in polyploids. Furthermore, some polyploids can be cryptic exhibiting disomy, instead of the polysomic inheritance. We will discuss the implications of these factors and present an EM-type algorithm for estimating allele frequencies of a polyploid population under certain patterns of inheritance. The method will be demonstrated on simulated data. We also discuss the nature of some of the additional problems that may be encountered with estimating allele frequencies in polyploids for which other solutions still need to be developed.

Algorithms↗