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PubMedDate not supplied

Epilepsy in Irish Wolfhounds.

During the last 15 years, breeders have reported an increase in the proportion of Irish Wolfhounds with seizure disorders. Clinical data and pedigrees from closely related Irish Wolfhounds were collected retrospectively and analyzed. Idiopathic epilepsy was diagnosed, by exclusion of other causes for seizures, in 146 (18.3%) of 796 Irish Wolfhounds from 115 litters. The first seizure occurred by the age of 3 years in 73% of all dogs. Males were more commonly affected than females (61.6% versus 38.4%), with males having a later average age of seizure onset. The life expectancy of affected dogs was decreased by 2 years when compared with the average Irish Wolfhound population. The heritability index for the affected dogs, their littermates, and unaffected parents was 0.87. No simple mode of inheritance explains the pattern of affected dogs in pedigrees. Hallmarks of dominant and sex-linked inheritance were notably absent, and the segregation ratio was less than would be expected for simple autosomal recessive inheritance. Assuming all affected dogs have the same form of epilepsy, the simplest description of the complex pattern of inheritance observed is autosomal recessive, with incomplete penetrance and male dogs at increased risk.

Aging↗
PubMed2004

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

The dentin sialophosphoprotein (DSPP) gene (4q21.3) encodes two major noncollagenous dentin matrix proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Defects in the human gene encoding DSPP cause inherited dentin defects, and these defects can be associated with bilateral progressive high-frequency sensorineural hearing loss. Clinically, five different patterns of inherited dentin defects are distinguished and are classified as dentinogenesis imperfecta (DGI) types I, II, and III, and dentin dysplasia types I and II. The genetic basis for this clinical heterogeneity is unknown. Among the 11 members recruited from the studied kindred, five were affected with autosomal dominant DGI type II. The mutation (g.1188C-->G, IVS2-3C-->G) lay in the third from the last nucleotide of intron 2 and changed its sequence from CAG to GAG. The mutation was correlated with the affection status and was absent in 104 unaffected individuals (208 alleles) with the same ethnic and geological background. The proband was in the primary dentition stage and presented with multiple pulp exposures. The occlusal surface of his dental enamel was generally abraded, and the dentin was heavily worn and uniformly shaded brown. The dental pulp chambers appeared originally to be within normal limits without any sign of obliteration, but over time (by age 4), the pulp chambers became partially or completely obliterated. The oldest affected member (age 59) showed mild hearing loss at high-frequency (8 kHz). Permanent dentition was severely affected in the adults, who had advanced dental attrition, premature loss of teeth, and extensive dental reconstruction.

Adolescent↗
PubMed1973

Antithrombin-3 deficiency in a Dutch family.

A Dutch family (family A) with inherited antithrombin-III deficiency and an increased incidence of venous thrombosis was investigated. Antithrombin-III levels were measured by means of a coagulation assay in plasma and by single radial immunodiffusion in plasma and serum.THREE GROUPS COULD BE DISTINGUISHED: group I comprised the relations-in-law of family A, group II the members of family A with a plasma antithrombin-III level higher than 90% of normal, when determined by the immunoassay, and group III the members of family A with an antithrombin-III level of less than 60%. To group III belonged all eight adults with an abnormal tendency to thrombosis, and furthermore nine children, all having a parent with abnormally low antithrombin-III levels. Mean plasma and serum antithrombin-III levels were significantly decreased in group III. However, the results of the coagulation assay showed some overlap between groups II and III. In addition, the immunoassay appeared to be much less laborious than the coagulation assay. Therefore, the former assay is recommended in any search for similar families. The results of our family investigation confirm the findings of Egeberg (1965) that inherited antithrombin-III deficiency, giving rise to plasma levels between 50 and 60% of normal, causes thrombophilia and that the pattern of inheritance is autosomal dominant.

Adult↗
PubMed1984

Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.

Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a temporary clinical and biochemical improvement in two cases.

Acetazolamide↗
PubMed1980

Genetic inheritance of susceptibility to tinea imbricata.

Segregation analysis on 228 family pedigrees collected from a Papua New Guinean population provided data that strongly supported a previous report of an autosomal recessive pattern of inheritance of a susceptibility to tinea imbricata. The frequency of the susceptibility gene within the population studied was found to be 0.49 +/- 0.04, calculated on the assumption of an autosomal recessive mode of inheritance. However, in spite of the strong evidence in support of autosomal recessive inheritance, the possibility of autosomal dominant inheritance with reduced penetrance cannot be excluded.

Female↗
PubMed1997

Family history of prostate cancer: a multi-center case-control study in Canada.

In a population-based case-control study of prostate cancer conducted in Montreal, Toronto and Vancouver between 1989 and 1993, a total of 640 newly incident cases and 639 aged-matched population controls were interviewed as to their family history of prostate cancer as well as nutritional and other lifestyle and environmental factors. In total, 94 cases (15%) reported at least one blood relative with a family history, as compared with 32 (5%) of controls, giving a relative risk of 3.32 (95% confidence interval 2.18-5.05). The association was very consistent across all 3 centers, and was similar for each specific type of relative considered (fathers or brothers). Thus, this study provides further evidence of familial aggregation of prostate cancer, and suggests the possibility that part or all of such clustering could be related to inherited genetic patterns; if so, the availability of screening procedures for the disease offers the possibility of useful early intervention in individuals with such inherited susceptibility.

Aged↗
PubMed2000

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

Over 20 severely obese subjects in 11 independent kindreds have been reported to have pathogenic heterozygous mutations in the gene encoding the melanocortin 4 receptor (MC4R), making this the most common known monogenic cause of human obesity. To date, the detailed clinical phenotype of this dominantly inherited disorder has not been defined, and no homozygous subjects have been described. We determined the nucleotide sequence of the entire coding region of the MC4R gene in 243 subjects with severe, early-onset obesity. A novel two-base pair GT insertion in codon 279 was found in two unrelated subjects, and four novel missense mutations, N62S, R165Q, V253I, C271Y, and one mutation (T112M) reported previously were found in five subjects. N62S was found in homozygous form in five children with severe obesity from a consanguineous pedigree. All four heterozygous carriers were nonobese. Several features of the phenotype, e.g. hyperphagia, tendency toward tall stature, hyperinsulinemia, and preserved reproductive function, closely resemble those reported previously in Mc4r knock-out mice. In addition, a marked increase in bone mineral density was seen in all affected subjects. In transient transfection assays, the N62S mutant receptor showed a responsiveness to alphaMSH that was intermediate between the wild-type receptor and mutant receptors carrying nonsense and missense mutations associated with dominantly inherited obesity. Thus MC4R mutations result in a syndrome of hyperphagic obesity in humans that can present with either dominant or recessive patterns of inheritance.

Adolescent↗
PubMed1984

X-linked inheritance of ocular albinism with late-onset sensorineural deafness.

We have investigated a large Afrikaner kindred in which seven males had ocular albinism and late-onset sensorineural deafness (OASD). The pattern of inheritance of OASD is X-linked recessive. To the best of our knowledge, this association has not previously been reported and in order to establish syndromic identity we describe and discuss the condition in this article.

Adult↗
PubMed1984

Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans.

An inherited neurological disorder characterized by sustained twisting movements during waking has been discovered in Sprague-Dawley rats. The mutation follows an autosomal recessive pattern of inheritance and has been named dystonic (dt). The rat mutants are indistinguishable from normal littermates in open field behavior and climbing activity prior to postnatal days 9 to 10. Clinical signs begin to appear on day 10 and include twisting of the axial musculature, hyperflexion of the trunk, self-clasping of forelimbs and hindlimbs, and poor placement of the limbs during locomotion. No morphological lesions of neural or non-neural tissues have been observed with routine light microscopy. Dystonic rats demonstrate significantly elevated cerebellar norepinephrine levels, although levels in other terminal fields of the locus ceruleus are similar to those of normal littermates. No differences in the pattern or density of noradrenergic innervation were apparent in cerebellar tissue from dt rats examined with histochemical fluorescence techniques. These mutants were less sensitive than unaffected littermates to the akinesic effects of the dopamine blocker haloperidol. However, striatal dopamine levels were not reliably different from normal in dt rats, and their response to the movement-stimulating effects of apomorphine appeared normal. These findings suggest the presence of biochemical disturbances in the extrapyramidal system of dt rats. The dt rat may provide a useful model for human dystonia musculorum deformans.

Aging↗
PubMed1988

Angular homeostasis II: Pursuit of a moving target in a plane and some implications for cardiac teratology.

A model of cardiac ontogenesis is analyzed. It is cast in terms of the geometry of the pursuit of a linearly moving target by the growth of a chain of cells in the same plane, the pursuer, which at each step adjusts its direction of growth towards the current position of the target. The endpoint is the fusion between them, which can occur in 2 modes: either by the leading cell of the pursuer catching up with the target (pursuer-mediated fusion, or PMF) or by the target running into the preformed side of the pursuer (target-mediated fusion, or TMF). The causal specifications are the step size, the speed of the pursuer, the speed of the target, the restoration constant, and the initial direction of the pursuer; the outcome variables are the number of steps to fusion and the mode of fusion. The pattern of behavior is complicated, being more-or-less regular over large tracts of values, interspersed with abrupt, threshold-like changes that may generate a dichotomous pattern of inheritance despite a continuous gradation of genetic or other causes. The temporary abolition of the correction process (a change introduced to simulate the pattern of the effect of a teratogen) may delay fusion and suggest how a septum may fail to fuse, the ductus arteriosus to close, or an endocardial cushion to form. But the model also predicts that under certain plausible conditions, the "teratogen" would speed up fusion and hence perhaps offset a genetic predisposition to a congenital defect.

Heart Defects, Congenital↗
PubMed2007

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.

Complex diseases are common genetic disorders showing familial aggregation but no typical Mendelian inheritance. Hirschsprung disease (HSCR), a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut, shows a complex pattern of inheritance, with the RET protooncogene acting as a major gene and additional susceptibility loci playing minor roles. In the last years, we have identified a "protective" RET haplotype, which is underrepresented in HSCR patients with respect to controls. Here, we demonstrate that the protective effect of this haplotype is due to a variant located in the 3' untranslated region (UTR) of the RET gene, which slows down the physiological mRNA decay of the gene transcripts. Such a functional effect of this common RET variant explains the under-representation of the whole haplotype and its role as a modifying factor in HSCR pathogenesis.

3' Untranslated Regions↗
PubMed1995

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed2004

Epigenetic germline inheritance.

Our increased knowledge of epigenetic reprogramming supports the idea that epigenetic marks are not always completely cleared between generations. Incomplete erasure at genes associated with a measurable phenotype can result in unusual patterns of inheritance from one generation to the next. It is also becoming clear that the establishment of epigenetic marks during development can be influenced by environmental factors. In combination, these two processes could provide a mechanism for a rapid form of adaptive evolution.

Animals↗
PubMed1978

Antibody diversity in amphibians: inheritance of isoelectric focusing antibody patterns in isogenic frogs.

Anti-sheep red cell, anti-dinitrophenyl, anti-phosphorylcholine antibody responses have been followed in isogenic frogs of the genus Xenopus. Isoelectric focusing antibody patterns show a high degree of overlap for all antigens studied, and a heterogeneity that is lower than in mammals for the same antigens. Inheritance of antibody isoelectric focusing spectrotypes was demonstrated for sheep red cells and dinitrophenyl in two clones of isogenic animals. Outbred frogs show a higher frequency of spectrotype sharing than outbred mammals. It is therefore suggested that antibody diversity is lower in frogs than in mammals.

Animals↗
PubMed1999

First evidence of pupal summer diapause in Pieris brassicae L.: the evolution of local adaptedness.

Pieris brassicae L. is adapted to a wide variety of local climates throughout the Palaeartic by means of geographic variation in daylengths and temperatures triggering winter diapause. We report for the first time a population from Sotogrande in southern Spain (strain S) that additionally exhibits a pronounced summer diapause in the pupal stage as a response to long daylengths. As well as having diapause triggered by long daylengths, this population develops directly at short, ecologically relevant daylengths. This unusual short-day type response is expressed at temperatures of 21 degrees C and above. The absence of cryptic summer diapause in a population from southern France indicates that this summer diapause evolved locally in Spain or Northern Africa in a population of P. brassicae which lacked this trait. The PPRs of strains S, H (Denmark) and B (France) and crosses between them suggest that summer diapause is inherited as a recessive allele which has a clinal decrease of frequency in populations northwards. The population from southern France shows that this simple pattern of inheritance is further modified by an unknown genetic mechanism controlling the expression of summer diapause near the border between aestivating and non-aestivating populations. On the basis of the photoperiodic response and climatic data we predict P. brassicae to have five or more generations each year in southern Spain.

Journal Article↗
PubMed2002

Homozygous Tsix mutant mice reveal a sex-ratio distortion and revert to random X-inactivation.

Tsix controls X-chromosome inactivation (XCI) by blocking the accumulation of Xist RNA on the future active X chromosome. Deleting Tsix on one X chromosome (X(Delta)X) skews XCI toward the mutated X chromosome in the female soma. Here I have generated homozygous Tsix-null mice (X(Delta)X(Delta)) to test how deleting the second allele affects the choice of XCI. Homozygosity leads to extremely low fertility and reveals two previously unknown non-mendelian patterns of inheritance. First, the sex ratio is skewed against female births so that one daughter is born for every two to three sons. Second, the pattern of XCI unexpectedly returns to random in surviving X(Delta)X(Delta) mice. Thus, with respect to choice, mutation of Tsix yields a phenotypic abnormality in heterozygotes but not homozygotes. To reconcile the paradox of female loss with apparent reversion to random choice, I propose that deleting both Tsix alleles results in chaotic choice and that randomness in X(Delta)X(Delta) survivors reflects a fortuitous selection of distinct X chromosomes as active and inactive.

Animals↗
PubMed2004

The relative lengths of individual telomeres are defined in the zygote and strictly maintained during life.

Previous studies have indicated that average telomere length is partly inherited (Slagboom et al., 1994; Rufer et al., 1999) and that there is an inherited telomere pattern in each cell (Graakjaer et al., 2003); (Londoño-Vallejo et al., 2001). In this study, we quantify the importance of the initially inherited telomere lengths within cells, in relation to other factors that influence telomere length during life. We have estimated the inheritance by measuring telomere length in monozygotic (MZ) twins using Q-FISH with a telomere specific peptide nucleic acid (PNA)-probe. Homologous chromosomes were identified using subtelomeric polymorphic markers. We found that identical homologous telomeres from two aged MZ twins show significantly less differences in relative telomere length than when comparing the two homologues within one individual. This result means that towards the end of life, individual telomeres retain the characteristic relative length they had at the outset of life and that any length alteration during the lifespan impacts equally on genetically identical homologues. As the result applies across independent individuals, we conclude that, at least in lymphocytes, epigenetic/environmental effects on relative telomere length are relatively minor during life.

Age Factors↗