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At least 91 records · Page 5Linked to original sources
PubMed1991

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.

Focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X-linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations and de novo chromosome rearrangements involving Xp22, observations of father-to-daughter transmission have suggested possible genetic heterogeneity and autosomal dominant inheritance with sex limitation. We hypothesize that, if FDH is an X-linked disorder, cells expressing an active disease locus might experience a selective disadvantage resulting in a nonrandom pattern of X-inactivation in patient tissue. To test this hypothesis, we studied one of the two previously described families demonstrating father-to-daughter inheritance of FDH. To determine if the affected daughter had a skewed pattern of X-inactivation consistent with X-linked inheritance of FDH, somatic cell hybrids were constructed by fusing hypoxanthine phosphoribosyl transferase (HPRT)-deficient rodent fibroblasts with either patient dermal fibroblasts or peripheral white blood cells (WBCs); hybrid clones retaining an active X chromosome were analyzed to determine the parental origin of the active X chromosome. Analyses of resulting hybrid clones showed that while hybrids constructed from skin fibroblasts contained an active X chromosome inherited from either of the patient's parents, hybrids constructed from WBCs showed a skewed pattern of X-inactivation; 11 of 11 hybrids contained an active maternal X chromosome (chi 2 = 12.2, P = .001).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1995

Dominant inheritance in two families with familial Mediterranean fever (FMF).

Familial Mediterranean fever (FMF) is an autosomal-recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel. Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation. In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients. In 2 families, one of Ashkenazi and the other of Georgian Iraqi origin, in which FMF occurred in 4 consecutive generations, the mode of inheritance could be explained only by autosomal-dominant inheritance.

Ethnicity↗
PubMed1983

X-linked dominant inherited diseases with lethality in hemizygous males.

X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.

Abnormalities, Multiple↗
PubMed1984

Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography.

To determine the mode of inheritance of hypertrophic cardiomyopathy (HC), 367 relatives from 70 families with HC were studied by M-mode and 2-dimensional echocardiography (2-D echo). Inspection of individual family pedigrees suggested that HC was genetically transmitted in 39 pedigrees (56%) and probably sporadic in 31 (44%). Of the 39 pedigrees with familial occurrence, 30 had patterns of inheritance that were most consistent with autosomal dominant transmission. A complex mathematical pedigree analysis determined that patterns of genetic transmission observed in the overall study group were not consistent with known models of autosomal dominant, autosomal recessive, or X-linked inheritance and did not support a unified concept of single-gene Mendelian transmission for all families. The proportion of first-degree relatives affected by HC was 22%, with HC most common in fathers of the proband and least common in offspring. About 20% of the affected relatives (10 of 53) appeared to have inherited a "subclinical" form of HC, in which the sole evidence of HC was the morphologic expression detectable only with echocardiography. Probands and affected relatives differed distinctly with regard to the expression of HC. Probands most often showed functional limitation (81%), subaortic obstruction at rest (53%), particularly diffuse distribution of left ventricular hypertrophy (59%) and marked septal thickening (mean 23 mm). In contrast, affected relatives were characterized by absence of functional limitation (72%) and subaortic obstruction (94%), localized and unusual sites of hypertrophy (60%) and only modest septal thickening (mean 17 mm).(ABSTRACT TRUNCATED AT 250 WORDS)

Cardiomyopathy, Hypertrophic↗
PubMed1990

Kinetoplast DNA minicircles are inherited from both parents in genetic hybrids of Trypanosoma brucei.

We have examined the inheritance of kinetoplast DNA (kDNA) in gentic crosses of trypanosomes. In 2 independent crosses of Trypanosoma brucei spp. trypanosomes, the kDNA maxicircles which carry the genes for mitochondrial biogenesis, were inherited from one parent only, as already found by other workers. However, the other component of kDNA, the minicircles, were inherited from both parents. This was demonstrated by Southern analysis using cloned minicircle probes. The inheritance of kDNA is therefore not uniparental. Our data point to fusion of the parental kinetoplast DNA networks during genetic exchange, with gradual loss of one or other parental maxicircle type due to random segregation of maxicircles at subsequent mitotic divisions. We infer that the first event of genetic exchange is fusion of parental trypanosomes (either haploid or diploid), followed at some point by fusion of the parental mitochondria.

Animals↗
PubMed1992

Co-recessive inheritance: a model for DNA repair and other surveillance genes in higher eukaryotes.

The co-recessive inheritance hypothesis proposes that certain recessively inherited diseases require homozygosity and/or hemizygosity for defective alleles at more than one locus simultaneously for the trait to be expressed. Although this hypothesis was originally proposed in the context of defective alleles for genes coding for DNA-repair functions, it need not be limited to this context, and genetic selection pressure may favor this model for genes involved in surveillance of any type. The co-recessive inheritance hypothesis also predicts extremely high carrier frequencies, likely affecting much of the general population, for defective alleles associated with these rare recessive diseases. The model predicts much lower rates of consanguinity between the parents of affected individuals than autosomal recessive inheritance, allowing it to be tested epidemiologically, and recent data suggest that the hypothesis may be valid for some cases of ataxia telangiectasia and xeroderma pigmentosum. The model provides possible explanations for a number of otherwise puzzling findings in several diseases associated with defective DNA repair.

Animals↗
PubMed1989

Centrosome inheritance in starfish zygotes: selective loss of the maternal centrosome after fertilization.

The mature egg inherits a centrosome from the second meiotic spindle, and the sperm introduces a second centrosome at fertilization. Since only one of these centrosomes survives to be used in development, specific mechanisms must exist to control centrosome inheritance. To investigate how centrosome inheritance is controlled we used starfish eggs as a model system, because they undergo meiosis after fertilization. As a result, the fate of the maternal and paternal centrosomes can be followed by light microscopy and experimentally manipulated in vivo. We show initially that only the paternal centrosome is used in starfish zygote development; the maternal centrosome retained from meiosis II is functionally lost before first mitosis. We then tested a number of possible ways in which the zygote could exert this differential control over the stability of centrosomes initially residing in the same cytoplasm. The results of these experiments can be summarized as follows: (1) Although the microtubule organizing center activity of the maternal centrosome is not degraded after meiosis, the ability of this centrosome to double at successive mitoses is lost. (2) The sperm centrosome is not "masked" from cytoplasmic conditions which could destabilize all centrosomes during or after the meiotic sequence. (3) The functional loss of the maternal centrosome is not due to its cortical location. (4) The loss of this doubling capacity is determined by the egg, not by putative inhibitory factors from the fertilizing sperm. (5) The destabilization of the maternal centrosome is not due to the complete loss of its centrioles. Together, these results demonstrate that all maternal centrosomes are equivalent and that they are intrinsically different from the paternal centrosome. This intrinsic difference, in concert with a change in cytoplasmic conditions after meiosis, determines the selective loss of the maternal centrosome inherited from the meiosis II spindle.

Animals↗
PubMed1983

Anterior sacral defects: an autosomal dominantly inherited condition.

Anterior sacral meningoceles and presacral teratomas are rare congenital malformations associated with a sacrococcygeal bony defect. The inheritance of anterior sacral meningoceles has been proposed to be X-linked dominant, whereas presacral teratomas have been reported to be autosomal dominantly inherited. Anterior meningoceles and teratomas may occur independently or in combination. We report a family in whom at least 11 individuals of three generations have partial sacral agenesis and have had either anterior sacral meningoceles, teratomas, or both. Male-to-male transmission has been documented. Although the existing literature differentiates the inheritance of anterior meningoceles from that of the teratomas, the pleiotropic effects of the gene causing these anterior sacral defects in this family is evident and is consistent with autosomal-dominant inheritance.

Adolescent↗
PubMed1989

The inheritance of acquired epigenetic variations.

There is evidence that the functional history of a gene in one generation can influence its expression in the next. In somatic cells, changes in gene activity are frequently associated with changes in the pattern of methylation of the cytosines in DNA; these methylation patterns are stably inherited. Recent work suggests that information about patterns of methylation and other epigenetic states can also be transmitted from parents to offspring. This evidence is the basis of a model for the inheritance of acquired epigenetic variations. According to the model, an environmental stimulus can induce heritable chromatin modifications which are very specific and predictable, and might result in an adaptive response to the stimulus. This type of response probably has most significance for adaptive evolution in organisms such as fungi and plants, which lack distinct segregation of the soma and germ line. However, in all organisms, the accumulation of specific and random chromatin modifications in the germ line may be important in speciation, because these modifications could lead to reproductive isolation between populations. Heritable chromatin variations may also alter the frequency and distribution of classical mutations and meiotic recombination. Therefore, inherited epigenetic changes in the structure of chromatin can influence neo-Darwinian evolution as well as cause a type of "Lamarckian" inheritance.

Base Sequence↗
PubMed1992

Inherited hemolytic uremic syndrome in adults.

Familial hemolytic uremic syndrome (HUS) in children may be due to environmental factors or may be an inherited trait, usually with autosomal recessive inheritance. Familial HUS in adults is less well described, and can be associated with autosomal recessive or dominant inheritance. We report a family with autosomal dominant inheritance of HUS. The proband was an adult male. His adult sister developed HUS while taking oral contraceptives, and their mother developed HUS during the third trimester of pregnancy. The prognosis for these patients is poor. Pregnancy and oral contraceptive use may be risk factors for development of HUS in adult women with a family history of HUS or the related disorder thrombotic thrombocytopenic purpura (TTP).

Adult↗
PubMed1991

Maternal inheritance of centrosomes in mammals? Studies on parthenogenesis and polyspermy in mice.

The centrosome, the microtubule-organizing center of the cell, is introduced typically by the sperm at fertilization. In some mammals, however, this paternal pattern of inheritance appears to be violated. The hypothesis that the centrosome is maternally inherited was tested during parthenogenesis, polyspermy, and polygyny as well as after recovery from microtubule inhibition at first mitosis. During parthenogenesis the paternal contribution was absent, and in polyspermy the paternal contribution was multiplied. Haploid and diploid parthenogenotes as well as polyspermic and digynic fertilized eggs each segregated their centrosomes to organize a bipolar mitotic apparatus. Oocytes recovering from a nocodazole block formed two normal bipolar mitotic apparatus; the paternal chromosomes aligned at one spindle equator, while the maternal chromosomes were found at the other. These results show that the centrosome is maternally inherited from cytoplasmic sites in the mouse. The evolutionary switch from paternal to maternal inheritance in mammals might be related to the additional dangers that parthenogenesis represents: a threat to the life of the mother as well as to the life of the fetus.

Animals↗
PubMed1990

Evidence for mitochondrial DNA polymorphism and uniparental inheritance in the cellular slime mold Polysphondylium pallidum: effect of intraspecies mating on mitochondrial DNA transmission.

Restriction fragment length polymorphisms (RFLPs) were used as markers to monitor mitochondrial inheritance in the cellular slime mold, Polysphondylium pallidum. When two opposite mating types (mat1 and mat2) of closely related strains were crossed, all the haploid progeny regardless of mating type inherited their mitochondrial DNA from the mat2 parent only. When opposite mating types from more distantly related strains were crossed, most of the progeny also inherited their mitochondrial DNA from the mat2 parent, but some inherited their mitochondrial DNA from the mat1 parent. In both cases however, the transmission of mitochondrial DNA was uniparental, since in every individual progeny only one type of mitochondrial DNA exists. Moreover, in crosses involving more distantly related strains all the progeny of a single macrocyst were shown to contain the same type of mitochondrial DNA. These findings are discussed in regard to mechanisms of transmission and the possible involvement of nuclear genes in the control of transmission of mitochondrial DNA in Polysphondylium.

Crosses, Genetic↗
PubMed1978

Uniparental inheritance of mitochondrial genes in yeast: dependence on input bias of mitochondrial DNA and preliminary investigations of the mechanism.

In Saccharomyces cerevisiae, previous studies on the inheritance of mitochondrial genes controlling antibiotic resistance have shown that some crosses produce a substantial number of uniparental zygotes, which transmit to their diploid progeny mitochondrial alleles from only one parent. In this paper, we show that uniparental zygotes are formed especially when one parent (majority parent) contributes substantially more mitochondrial DNA molecules to the zygote than does the other (minority) parent. Cellular contents of mitochondrial DNA (mtDNA) are increased in these experiments by treatment with cycloheximide, alpha-factor, or the uvsp5 nuclear mutation. In such a biased cross, some zygotes are uniparental for mitochondrial alleles from the majority parent, and the frequency of such zygotes increases with increasing bias. In two- and three-factor crosses the cap1, ery1, and oli1 loci behave coordinately, rather than independently; minority markers tend to be transmitted or lost as a unit, suggesting that the uniparental mechanism acts on entire mtDNA molecules rather than on individual loci. This rules out the possibility that uniparental inheritance can be explained by the conversion of minority markers to the majority alleles during recombination. Exceptions to the coordinate behavior of different loci can be explained by marker rescue via recombination. Uniparental inheritance is largely independent of the position of buds on the zygote. We conclude that it is due to the failure of minority markers to replicate in some zygotes, possibly involving the rapid enzymatic destruction of such markers. We have considered two general classes of mechanisms: (1) random selection of molecules for replication, as for example by competition for replicating sites on a membrane; and (2) differential marking of mtDNA molecules in the two parents, possibly by modification enzymes, followed by a mechanism that "counts" molecules and replicates only the majority type. These classes of models are distinguished genetically by the fact that the first predicts that the output frequency of a given allele among the progeny of a large number of zygotes will approximately equal the average input frequency of that allele, while the second class predicts that any input bias will be amplified in the output. The data suggest that bias amplification does occur. We hypothesize that maternal inheritance of mitochondrial or chloroplast genes in many organisms may depend upon a biased input of organelle DNA molecules, which usually favors the maternal parent, followed by failure of the minority (paternal) molecules to replicate in many or all zygotes.

Alleles↗
PubMed1991

Determining the mode of inheritance of pesticide resistance with backcross experiments.

The most widely used method for evaluating the mode of inheritance of pesticide resistance is based on bioassays of individuals from a backcross between F1 (hybrid of resistant and susceptible strains) and parental resistant or susceptible strains. Monte Carlo simulations of the standard backcross method showed that the probability of incorrectly rejecting the null hypothesis of monogenic inheritance (Type I error) was generally more than double the conventional value of P = 0.05. Conversely, the null hypothesis of monogenic inheritance was likely to be accepted in a relatively large proportion of cases in which resistance is controlled by two or more loci. Expected differences in mortality of backcross offspring between monogenic and additive polygenic models approached zero as dose approached extremely low values, extremely high values, and the LD50 of the backcross generation. Thus, the effectiveness of the backcross method depended strongly on dose. The power of the standard backcross method to correctly reject the null hypothesis of monogenic inheritance increased as number of loci, slope of parental dose-mortality lines, magnitude of resistance, and sample size increased. Guidelines for improving the design and interpretation of backcross experiments are presented.

Animals↗
PubMed1990

The inclusion of an assay for inherited congenital malformations in the assessment of mutagenicity.

A number of national guidelines and regulations on the mutagenicity of chemical substances mandate the assessment of inherited genetic effects. While inherited congenital malformations represent a major component of genetically-based adverse human health effects, tests for such effects are not used by regulatory agencies to evaluate inherited genetic effects. This paper is intended to highlight some of the salient characteristics of inherited congenital malformations which promote a rationale for their use in a regulatory context.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Autosomal recessive inheritance of goiter in Dutch goats.

The inheritance of congenital goiter due to a thyroglobulin synthesis defect in a strain of Dutch goats has been studied by Mendelian and biochemical methods. Mendelian analysis of 301 matings, resulting in 591 kids, showed an autosomal recessive mode of inheritance. A restriction fragment length polymorphism (RFLP) in the thyroglobulin gene also was used to confirm the recessive mode of inheritance of the defect. In a pedigree consisting of 27 goats, spanning four generations, the genotype determined by RFLP study was in accordance with the observed phenotype and the autosomal inheritance of the defect. Although phenotypically no differences were detected between normal and heterozygous animals, the use of RFLPs allowed the diagnosis of the three genotypes.

Animals↗
PubMed1991

Inheritance of the equine Tf F3 allele.

The inheritance of the equine Tf F3 allele was examined in 39 parent-offspring combinations. For 26 of the cases the allele inherited by the offspring from the heterozygous parent could be determined. The proportion of individuals that inherited the F3 variant compared to the alternative allele was exactly 1:1. In five cases the parental phenotype was identical to that of the offspring. For the remaining eight cases the parent was homozygous for the F3 allele and all offspring had the F3 allele. The results were consistent with Mendelian inheritance.

Alleles↗
PubMed1995

Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.

An increasing number of diseases are being found to be due to elongation of specific trinucleotide repeat sequences. Inverse correlation between the age at onset and the length of the repeat has been found in most of these. The elongated CAG repeat causing Huntington's disease is highly unstable when inherited from an affected father. In this study we found an average parent-to-offspring difference of +0.08 repeat units in maternally inherited repeats, significantly less than the average difference of +2.92 repeat units with paternal transmission. Large repeat expansions, of more than 5 repeat units, were seen only in paternally inherited cases. With paternal transmission the magnitude of repeat length alterations was directly correlated to increasing paternal repeat length. Increasing variation in repeat length among siblings was correlated to increasing average repeat length in the sibship in both maternally and paternally inherited HD. Comparison of the magnitude of repeat length alterations to parental age at the time of birth of the offspring showed no correlation.

Fathers↗