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PubMed2000

Inherited epithelial tumors of the kidney: old and new diseases.

This review summarizes information on inherited epithelial tumors of the kidney. Emphasis is placed on identifying clinically distinct inherited forms of renal cancer because each distinct clinical syndrome defines a different renal cancer susceptibility gene. So far, two genes that predispose to epithelial cancers of the kidney have been identified, VHL and the MET proto-oncogene. Available evidence suggests that several renal cancer genes remain to be identified.

Chromosomes, Human, Pair 3↗
PubMed2007

Mitochondrial DNA inheritance after SCNT.

Mitochondrial biogenesis and function is under dual genetic control and requires extensive interaction between biparentally inherited nuclear genes and maternally inherited mitochondrial genes. Standard SCNT procedures deprive an oocytes' mitochondrial DNA (mtDNA) of the corresponding maternal nuclear DNA and require it to interact with an entirely foreign nucleus that is again interacting with foreign somatic mitochondria. As a result, most SCNT embryos, -fetuses, and -offspring carry somatic cell mtDNA in addition to recipient oocyte mtDNA, a condition termed heteroplasmy. It is thus evident that somatic cell mtDNA can escape the selective mechanism that targets and eliminates intraspecific sperm mitochondria in the fertilized oocyte to maintain homoplasmy. However, the factors responsible for the large intra- and interindividual differences in heteroplasmy level remain elusive. Furthermore, heteroplasmy is probably confounded with mtDNA recombination. Considering the essential roles of mitochondria in cellular metabolism, cell signalling, and programmed cell death, future experiments will need to assess the true extent and impact of unorthodox mtDNA transmission on various aspects of SCNT success.

Animals↗
PubMed1985

Mechanisms essential for stable inheritance of mini-F plasmid.

The F plasmid has its own partition mechanism and ccd mechanism (coupled cell division), besides its own replication mechanism, in order to be stably inherited into daughter cells through cell division. These 3 mechanisms are independent of one another. Therefore, when a DNA segment essential and sufficient for a mechanism is jointed to other heterologous plasmids, the segment is also functional. Most of natural low copy number plasmids might also have their own replication, partition, and ccd mechanisms. These 3 mechanisms may be fundamental to ensure stable inheritance for low copy-number replicons in prokaryotes.

Bacteriophage lambda↗
PubMed1991

Restricted utilization of germ-line VH genes in rabbits: implications for inheritance of VH allotypes and generation of antibody diversity.

The presence of inherited VH region allotypic specificities, a1, a2 or a3, on nearly all rabbit immunoglobulins has presented a paradox. We know the germline contains hundreds of VH genes, and if we assume that most of these are used in the generation of antibody diversity, then we must ask how have the a allotype-encoding regions been maintained over time? On the other hand, if we assume that only one (or a small number) of these VH gene(s) is (are) used in VDJ gene rearrangements, then, how is antibody diversity generated? To address these questions, we have cloned and determined the nucleotide sequence of the 3'-most germline VH genes from the a1, a2 and a3 chromosomes and shown in each case that the 3'-most H gene, VH1-a1, VH1-a2, or VH1-a3, encodes an a1, a2 or a3 VH region, respectively. Analysis of rearranged VDJ genes from leukemic B cells showed that VH1 was utilized in these rearrangements. Based on these data, we propose that the allelic inheritance of the VH allotypes is explained by the preferential usage of the VH1 gene in VDJ rearrangements. Support for this hypothesis was obtained from analysis of the mutant rabbit Alicia in which most serum Ig molecules do not have VHa allotypic specificities, but instead have so-called VHa-negative Ig molecules. In this rabbit, VH1 is not expressed as it has been deleted. Analysis of cDNA clones from spleen of Alicia rabbits suggests that the expressed VHa-negative molecules also are encoded by a single germline VH gene. Thus, we suggest that nearly all rabbit VH regions are encoded by one to two germline VH genes and that antibody diversity is generated primarily by somatic hypermutation and gene conversion.

Amino Acid Sequence↗
PubMed1990

Structural defects in inherited and giant platelet disorders.

As diverse as the group of inherited structural defects and giant platelet disorders presented in this chapter may seem, there is a common thread that ties them together. All appear to represent some form of membrane aberration. Sometimes only a small inclusion identifies the membrane defect, sometimes a massive increase in size. In others, whole populations of organelles are missing or surface membranes lack specific glycoproteins essential for their function. All of them are born in the deep recesses of a hidden cell, the bone marrow megakaryocyte. Getting the megakaryocyte out into the light of day, or at least into a culture medium, should certainly lead to the solution of many, if not all, of the disorders of platelet membranes and membrane disorders. We have not been completely successful in our efforts to study the megakaryocyte in vitro. As a result, we do not yet understand the normal megakaryocyte, much less normal platelet. The megakaryocyte presents one of the greatest of challenges to our understanding of membrane biology. As our knowledge of how its cytoplasm fills with interiorly and exteriorly derived membranes, and the mechanisms underlying their organization into platelet surfaces, channels of the OCS and DTS, membrane complexes, and five kinds of organelles become clear, our ability to define the basic nature and inheritance of defects will improve rapidly. Within the next decade most aspects of platelet molecular genetics and cell biology will be solved.

Bernard-Soulier Syndrome↗
PubMed1990

The inheritance of the piebald spotting pattern and its variation in Holstein-Friesian cattle and in Landseer-Newfoundland dogs.

The black and white spotting patterns of Landseer dogs are divided into qualitatively recognizable phenotypic classes. Breeding data were obtained from the Swiss Dog Stud Book (SHSB) and from breeders' recent records. A plausible interpretation assumed qualitative inheritance of the generally accepted piebald spotting gene sp1 with at least two modifiers, s2 and s3. The modifier genes are regarded as minor spotting genes and may be responsible for white markings in the related Newfoundland breed which has been cross-bred with Landseers. The proposed scheme of polygenic inheritance can also be applied to the piebald spotting pattern of Holstein-Friesian cattle, using breeding data from literature.

Animals↗
PubMed1985

Electrophysiology and inherited retinal disorders.

An understanding of electrophysiologic procedures and their application is crucial for evaluating patients with inherited retinal disorders. This review emphasizes the value of electrophysiologic procedures in the differential diagnosis of clinically similar disorders, the evaluation of atypical presentations of known retinal disorders, and the determination of the extent of dysfunction in photoreceptor-retinal pigment epithelial disease. It is important for each investigator to assess quantitatively the short-term variability inherent in each electrophysiologic procedure so that meaningful data can be obtained on the natural history of the various inherited retinal disorders being monitored.

Diagnosis, Differential↗
PubMed1996

The molecular basis for inherited bullous diseases.

In the past 5 years enormous progress have been made in our understanding of the molecular basis for a number of inherited skin diseases characterized by easy blistering of the skin and the mucous membranes after minor physical trauma. This increased fragility of the skin or its appendages is due to molecular defects in genes coding for different intra- and extracellular structural proteins which are responsible for mechanical strength at their sites of expression. These diseases encompass the group of epidermolysis bullosa and disorders of cornification such as bullous forms of ichthyosis, palmoplantar keratoderma, and pachyonychia congenita. On the basis of clinical, morphological, and ultrastructural observations the epidermolysis bullosa group has been divided into three major categories. In epidermolysis bullosa simplex blister formation appears within the basal cell layer of the epidermis, and many mutations have been found in the genes of keratin 5 and 14 which are both expressed in basal keratinocytes. Epidermolytic hyperkeratosis leads to an epidermal separation in the suprabasal cell layers. In these patients numerous point mutations have now been described in the suprabasally expressed genes of keratin 1 and 10. In ichthyosis bullosa of Siemens blisters occur in the more upper suprabasal epidermis coincidental with the expression of keratin 2e, and mutations have been detected in the corresponding gene. In epidermolytic palmoplantar hyperkeratosis the suprabasal epidermal splitting is restricted to palms and soles of the patient. In keratin 9, which reveals such an exclusive expression pattern, molecular defects have indeed been recognized. Most recently in two different clinical subtypes of pachyonychia congenita, which is characterized by defective nails and focal palmoplantar hyperkeratosis, point mutations have been found in the genes coding for keratins 6, 16, and 17. In junctional epidermolysis bullosa the separation takes place within the dermal-epidermal basement membrane at the level of the lamina lucida, and mutations have been found in three genes coding for different laminin chains, in the beta4 gene of alpha6beta4 integrin, and in the gene of collagen XVII. In dystrophic epidermolysis bullosa the tissue separation occurs beneath the basement membrane within the papillary dermis at the level of the anchoring fibrils, and several mutations have been identified in the collagen VII gene. The rapid unraveling of molecular defects in these disabling or even lethal inherited skin diseases makes possible a more precise and earlier prenatal diagnosis, creates new options for suitable therapeutic regimens, and even offers the hope of curing these diseases by means of somatic cell gene therapy.

Antigens, CD↗
PubMed1995

Inheritance of migraine investigated by complex segregation analysis.

Migraine is the most common neurological disorder, affecting about 20% of adults. The mode of inheritance was analyzed in the two main types of migraine, migraine without aura (MO) and migraine with aura (MA), by complex segregation analysis using the computer program POINTER. We included 126 probands with MO and 127 probands with MA from the general population. First-degree relatives and spouses were blindly interviewed by a neurological research fellow. The complex segregation analysis indicated that both MO and MA have multifactorial inheritance without generational difference.

Adolescent↗
PubMed1993

X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.

A family with myoclonus epilepsy has been described previously as suffering from an X-linked disorder, because at least four males were affected, and only mild and variable symptoms were seen in some female carriers. In this family, we have now identified a mitochondrial A-->G (8344) heteroplasmic point mutation. This point mutation has been described in families with maternally inherited myoclonus epilepsy and ragged red fibers. The degree of severity of the disorder in the different family members was reflected in the relative quantity of mutated mitochondrial DNA. It is concluded that the mode of inheritance in this family is not X-linked but maternal.

Adenosine↗
PubMed1978

Monogene inheritance of learning speed in DBA and C3H mice. A behavioral genetic study in the shuttle-box.

We carried out investigations on C3H, NMRI, C57Bl/6, Balb/c, Balb/cN, and DBA inbred mouse strains in the shuttle-box to see whether their learning behavior is genetically controlled. The highly different learning behavior of the parental strains made it possible to test the F1 hybrids and the F2 generation. The environmental influences were standardized as much as possible. In particular, influences possible during the lactation period were excluded by using foster breeding. The results enable us to postulate monogenic inheritance for the learning speed in the shuttle-box. The inheritance is interpreted as codominant. The investigations are part of a basic study in mammalian behavior genetics from the human genetic aspect.

Animals↗
PubMed1978

Evidence for the inheritance of silver-stained nucleolus organizer regions.

The inheritance of nucleolus organizer regions (NORs) was investigated by examining the degree of silver-staining in individual acrocentric chromosomes in two successive generations. The study was undertaken in six Down's syndrome children and their respective parents. Quinacrine fluorescent polymorphisms were used to identify individual acrocentrics and to determine which of the child's acrocentrics were informative as to parental homologue of origin. Of the 66 acrocentrics in the six children, 31 were informative. The correlation between the degree of silver=staining in the child's chromosomes and the respective parental chromosomes of origin was highly significant (P less than 0.001), with a correlation coefficient of 0.90. The results suggest that the degree of Ag-AS staining is characteristic for a particular chromosome and that this characteristic is an inherited property.

Cell Nucleolus↗
PubMed1986

A model of proliferating cell populations with inherited cycle length.

A mathematical model of cell population growth introduced by J.L. Lebowitz and S.I. Rubinow is analyzed. Individual cells are distinguished by age and cell cycle length. The cell cycle length is viewed as an inherited property determined at birth. The density of the population satisfies a first order linear partial differential equation with initial and boundary conditions. The boundary condition models the process of cell division of mother cells and the inheritance of cycle length by daughter cells. The mathematical analysis of the model employs the theory of operator semigroups and the spectral theory of linear operators. It is proved that the solutions exhibit the property of asynchronous exponential growth.

Cell Cycle↗
PubMed1975

[Centronuclear myopathy with autosomal dominant inheritance(author's transl)].

For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.

Adolescent↗
PubMed1988

Maternal modulation of the inheritable meiosis I error Dipl I in mouse oocytes is associated with the type of mitochondrial DNA.

The ovulation of diploid oocytes, abnormally arrested at or during the first meiotic division, is an inheritable trait (DiplI) in mice and modulated by a maternally transmitted factor. By repeated backcrossing, mouse strains with identical nuclear encoded genes and differing only in their mitochondrial genomes can be created. NMB mice represent such a strain having acquired the nuclear genome of C57BL/6J but still possessing mitochondria and therewith mitochondrial DNA (mtDNA) of NMRI/Bom, their female progenitor. The strains NMB and C57BL/6J were used to characterize a new mitochondrial trait, namely the ability to modulate the expression of the inheritable meiosis I error Dipl I in oocytes. We show that an increased rate of ovulated diploid oocytes is associated with the mtDNA type of C57BL/6J. These results corroborate the assumption that mitochondria do play an important role in meiosis of mammalian oocytes and hence seem to be involved also in the orderly segregation of chromosomes.

Animals↗
PubMed1981

Unbalanced Robertsonian translocations associated with Down's syndrome or Patau's syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio.

Summary data are presented on 168 D/21 and 131 G/21 translocation trisomies reported to the New York State Chromosome Registry. By combining these data with others from the literature it is estimated that about 59% of D/21 cases are the result of mutation in hte parental generation; the rest are translocations inherited from parental carriers (39% maternal, 3% paternal). The proportion of mutants is about 10% greater for 14/21 cases and significant lower for 13/21 cases. Of G/21 cases 93% are mutant, about 6% of maternal origin, and 1% of paternal origin. All the mutant cases involve 21/21 rearrangements. Estimated mutation rates per 10(5) gametes for translocation trisomies in affected livebirths are 0.1 for 21/13, 0.5 to 0.9 for 21/14, and 1.1 to 1.4 for 21/21. The rates for 21/15 and 21/22 translocation trisomies are probably all conservatively less than 0.1 per 10(5) gametes. Of interchange trisomy Patau's syndrome, about 60% of cases are mutant; the rest are translocations inherited from a parental carrier (about 25% maternal, 15% paternal). The mutant proportion is about 90% for 13/13 cases and about 45% for 13/14 cases. The estimated mutation rates for 13/13 and 13/14 interchange trisomies are each about 0.5 per 10(5) gametes; te rate for 13/15 interchange trisomies is less than 0.1 per 10(5) gametes. A male excess is observed for D/21 (sex ratio = 1.70) and G/21 (sex ratio = 1.38) interchange Down's syndrome, and a female excess for D/13 interchange Patau's syndrome (sex ration = 0.77), trends similar to those seen in the respective 47, trisomies associated with these phenotypes.

Chromosomes, Human, 13-15↗
PubMed1994

Inheritance and expression of a transgene insert in an aneuploid tobacco line.

A T-DNA locus comprising nptII, uidA and nos genes--all under the control of the nos promoter (this locus was designated K because it encodes resistance to Kanamycin)--was found to be inherited erratically in a transgenic tobacco line. This anomalous behavior was partially explained following a karyotype analysis of plants representing several generations: these plants were aneuploids, presumably for the K-containing chromosome. During four generations of sexual propagation, transgenic plants that were either trisomic or tetrasomic for the K-containing chromosome (i.e. 2n = 49 or 2n = 50, respectively) were obtained. The trisomic plants (2n = 48 + 1) were virtually indistinguishable phenotypically from normal euploids (2n = 4x = 48), whereas the tetrasomic plants (2n = 48 + 2) were smaller, had somewhat misshapen leaves and exhibited reduced fertility. Although the amount of NPTII protein in different trisomic (K--, KK-, KKK) and tetrasomic (KK--, KKK-) plants was generally consistent with a K dosage effect, the genetic behavior of each trisomic--with respect to segregation of KanR and marker gene activity in progeny--was unique and not completely explicable by invoking aneuploidy. Specifically, unexpected gains or losses of K could occur, suggesting the formation of double reductional gametes and/or frequent gene conversion at this locus. The susceptibility of K locus marker genes to trans-inactivation in the trisomic and tetrasomic lines was tested by crossing in partially homologous silencing loci. In all transgenotypes tested, the three K marker genes were sensitive to trans-silencing, which was accompanied by methylation in all copies of the nos promotor. In addition to this directed inactivation/methylation, the K locus could also undergo infrequent, spontaneous partial methylation, which produced stable epialleles. In most plants, however, the multiple copies of the nos promoter at this locus remained unmethylated and active through four generations in all transgenotypes examined. The significance of these results for irregular inheritance patterns, aneuploid syndromes and homology-dependent gene silencing is discussed.

Aneuploidy↗
PubMed1990

Plastid inheritance in Pisum sativum L.

Cultivar variability for levels of plastid DNA (cpDNA) in the germ cell line of germinated pea pollen has suggested the possibility of biparental plastid transmission. In order to examine this possibility further, RFLP markers were used to follow the transmission of cpDNA from parents to their F1 offspring. Results from these inheritance studies clearly indicate the presence of only maternal plastid markers in the F1 progeny of each cross examined, irrespective of the pollen cpDNA levels of the paternal parent. The same result is obtained for F1 progeny produced from crosses using pollen characterized by comparatively high cpDNA content, even when offspring are sampled at early developmental stages. Thus, there appears to be little correspondence between pollen cytological data indicating potential paternal plastid transmission and data from molecular marker studies confirming that P. sativum generally follows a uniparental-maternal mode of plastid inheritance. Insufficient F1 progeny were examined to exclude instances of trace biparentalism.

Chloroplasts↗