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PubMed1992

Inheritance of the replication complex by one of two daughter copies during lambda plasmid replication in Escherichia coli.

Direct measurement of DNA synthesis confirmed that lambda plasmid replication proceeds for several hours in an amino acid-starved relA mutant of Escherichia coli, leading to plasmid amplification; this replication is lambda cro-independent, but requires the function of lambda O initiator in the absence of its synthesis. This suggests that after the assembly of the replication complex (RC) at ori lambda the lambda O protein remains in this structure and the affinity of lambda O to ori lambda is alleviated in the assembled RC allowing its movement along the DNA. During amino acid starvation the lambda plasmid DNA synthesis per bacterial mass occurs at a constant level, as would be expected if the number of functioning RCs remained constant. This favors the idea that under these conditions the next replication round operates due to the activity of the RC inherited from the preceding round. Density shift experiments reveal indeed that, from two daughter plasmid copies synthesized after the onset of amino acid starvation only one is able to enter into the next round of replication. We infer that this is the plasmid copy that inherits the lambda O-enclosing RC from the previous replication round. Moreover, the same results of density shift experiments were obtained for plasmids synthesized before the onset of amino acid starvation. Therefore, we presume that in lambda plasmid-harboring bacteria growing in nutrient medium, every second plasmid circle bears an RC that originates from the preceding round of replication. This structure has to be assembled de novo only on the daughter plasmid copy that does not inherit the parental RC. In the absence of lambda O initiator synthesis in amino acid-starved relA cells this process cannot occur, leaving as the only replication pathway that driven by the parental RC. Our results are discussed in relation to the model of regulation of lambda plasmid replication.

Bacteriophage lambda↗
PubMed1991

Glucose intolerance in first-degree relatives of patients with Friedreich's ataxia is associated with insulin resistance: evidence for a closely linked inherited trait.

Multiple and different genetic defects may be associated with the development of diabetes mellitus. Friedreich's ataxia (FA) is an autosomal recessively inherited neurologic disease associated with a high prevalence of diabetes. We previously demonstrated that patients with FA have insulin resistance prior to the development of overt diabetes mellitus. To determine if insulin resistance is an inherited characteristic in this group, we performed oral glucose tolerance tests (OGTT) on first-degree relatives, 21 parents and 17 siblings, of patients with FA. While fasting concentrations were normal, both glucose and insulin concentrations in response to oral glucose were significantly elevated compared with controls. Corrected insulin responses, CIR = I x 100/G (G-70) (I = insulin, G = glucose), were not different from controls, whereas peripheral insulin activities, A = 10(4)/Ip Gp (p = values of I and G at peak glucose concentration), were significantly decreased (FA, 0.66 +/- 0.11, P less than .001; parents, 0.63 +/- 0.06, P less than .001; siblings, 0.72 +/- 0.09, P less than .01; v controls, 1.52 +/- 0.19), indicating the presence of insulin resistance in patients and first-degree relatives. Multiple discriminant analysis was used to separate patients with FA from controls. The combination of GLUT (sum of glucose values 0 to 3 hours of the OGTT) and CIR achieved significant separation (P less than .0004). Subsequent assignment of the relatives showed that 17 of 18 parents and 11 of 16 siblings (69%) fell in the range of FA, rather than with controls. These data suggest that insulin resistance is an inherited trait in this group.(ABSTRACT TRUNCATED AT 250 WORDS)

Aging↗
PubMed1992

Combined inherited protein S and heparin co-factor II deficiency in a patient with upper limb thrombosis: a family study.

A 42-year-old Italian woman presenting with spontaneous deep vein thrombosis of the right arm, was found to have inherited a deficiency of both protein S (PS) and heparin co-factor II (HC II). The two defects seemed to segregate independently, since her son exhibited only a HC II deficiency while one of her sisters manifested only the PS defect. All affected patients appeared heterozygous for one or other or both deficiency states. The proposita and her sister exhibited a congenital PS deficiency consisting of normal or near normal levels of total PS antigen and C4b-binding protein (C4b-BP) but a moderate reduction both of free PS antigen and of PS functional activity. In addition, the proposita and her son had half normal levels of HC II antigen and activity. Except for the proposita, all were asymptomatic. Inherited deficiencies either of PS or of HC II have been associated with thrombotic manifestations. Since the proposita had an inherited combined defect of the two proteins, severe thrombotic events might be expected. However, this was not found to be the case. The role of HC II deficiency in the pathogenesis of thrombosis whether alone or combined remains to be fully investigated.

Adolescent↗
PubMed1993

A mating type-linked gene cluster expressed in Chlamydomonas zygotes participates in the uniparental inheritance of the chloroplast genome.

A characteristic feature of early zygote development in Chlamydomonas is the selective degradation of chloroplast DNA from the mating type minus parent. The zygote-specific gene cluster ezy-1 is linked to the mating type locus and is transcribed almost immediately upon zygote formation. We show here that the acidic Ezy-1 polypeptide is rapidly transported to both the plus and minus chloroplasts, where it interacts with each chloroplast nucleoid. Expression of ezy-1 is selectively inhibited when plus, but not minus, gametes are briefly ultraviolet irradiated just prior to mating, a treatment known to disrupt the uniparental inheritance of chloroplast traits. We propose that the Ezy-1 polypeptide participates in the destruction of the minus chloroplast DNA in zygotes and thus the uniparental inheritance of chloroplast traits. The ezy-1 gene represents a valuable molecular probe for dissecting mechanisms underlying organelle inheritance.

Amino Acid Sequence↗
PubMed1991

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.

Inherited epidermolysis bullosa encompasses a number of diseases, with the common finding of blister formation after minor mechanical trauma to the skin. In some forms significant, if not eventually fatal, extracutaneous disease activity may occur. In recent years application of newer technologies has contributed substantially to an overall understanding of this collection of inherited diseases. Concurrently, many new phenotypes have been recognized, in part the result of ongoing prospective patient registries in the United States and abroad. Unfortunately, this has resulted in a massive literature that may appear to be confounded by seemingly excessive or arbitrary subdivision of epidermolysis bullosa variants. With these concerns in mind a subcommittee was established by the National Epidermolysis Bullosa Registry to summarize the current literature and to make recommendations as to the best clinical and laboratory criteria for the practical diagnosis and subclassification of patients with inherited epidermolysis bullosa.

Epidermolysis Bullosa↗
PubMed1993

Inheritance of resistance to oedema disease in the pig: experiments with an Escherichia coli strain expressing fimbriae 107.

Inheritance of resistance to intestinal colonization with E. coli causing oedema disease is hypothesized to be under the control of one locus consisting of two alleles with susceptibility (S) dominating resistance (s). This mode of inheritance was investigated by mating pigs, resistant and susceptible to the disease, and examining the offspring. Weaned piglets were repeatedly inoculated orally with 5 x 10(5) CFU per pig per day of a streptomycin resistant strain of E. coli serotype O139:K12(B):H1:F(107) and susceptibility determined by daily semiquantitative cultural examination of rectal swabs. Using results obtained from offspring, 5 boars were retrospectively assigned the genotype ss, 1 was assigned Ss, and 2 were assigned SS. Nine sows were designated ss, 8 classified Ss and 4 SS. Ninety two pigs resulted from matings regarded as ss x ss; 89 (97%) of these were resistant to colonization and oedema disease. Of the 168 pigs from Ss x ss matings, 83 (49%) were resistant, while only 13 (9%) of 146 pigs from matings with at least one SS parent were classified resistant. The results are compatible with inheritance being controlled by one locus and with susceptibility dominating resistance to oedema disease.

Amoxicillin↗
PubMed1996

Triggered activity as a mechanism for inherited ventricular arrhythmias in German shepherd Dogs.

OBJECTIVES: This study sought to determine whether early afterdepolarization-induced triggered activity is responsible for the initiation of ventricular arrhythmias in dogs with an inherited predisposition to sudden death. BACKGROUND: We have identified a colony of German shepherd dogs that display inherited ventricular ectopic activity and sudden cardiac death. The arrhythmias in these animals are pause dependent but are not associated with a prolonged QT interval, suggesting that they might be initiated by early afterdepolarization-induced triggered activity in Purkinje fibers. METHODS: Cardiac Purkinje fibers obtained from dogs that either did or did not exhibit ventricular tachyarrhythmias at the time of study were superfused in vitro with normal Tyrode solution (extracellular potassium ion concentration 4 mmol/liter) and were studied using standard microelectrode techniques. RESULTS: Early afterdepolarizations and triggered activity occurred spontaneously in Purkinje fibers obtained from affected dogs (n = 7) but not in fibers obtained from unaffected dogs (n = 13). Exit conduction block of triggered responses occurred to varying degrees within the Purkinje fiber but not at the Purkinje-muscle junction. Overdrive pacing suppressed triggered activity. The reemergence of triggered activity after cessation of pacing was both time and rate dependent. Triggered activity in fibers obtained from affected dogs was potentiated by phenylephrine and epinephrine and was suppressed by isoproterenol. Triggered activity was not induced by phenylephrine or epinephrine in fibers obtained from unaffected dogs. CONCLUSIONS: These results support the hypothesis that early afterdepolarization-induced triggered activity in Purkinje fibers is responsible for the initiation of ventricular arrhythmias in this canine model of inherited sudden death.

Adrenergic alpha-Agonists↗
PubMed1997

Functions of dietitians providing nutrition support to patients with inherited metabolic disorders.

This article examines functions of dietitians who provide nutrition services to patients with inherited metabolic disorders. A survey questionnaire was developed and pilot-tested in a sample of dietitians, revised, and mailed to all dietitians in the United States who treat patients with inherited metabolic disorders. One hundred forty-two usable questionnaires were returned. Descriptive statistics were used to calculate response frequency. The highest academic degree attained by 37% of the dietitians was a bachelor's degree; 58% had earned a master's degree and 5% a doctorate. Dietitians provided nutrition services during diagnosis, critical illness, and long-term care. More than 90% of the dietitians performed these functions: evaluated nutrition status; prepared, implemented, and evaluated the nutritional support plan; revised the nutrition support plan as needed; monitored dietary compliance; coordinated care with other agencies; developed materials and educated parents, caregivers, and patients about the nutrition support plan; and recorded information in the medical record. Without nutrition support, patients with inherited metabolic disorders may become mentally retarded, experience neurologic or metabolic crises, or die.

Dietetics↗
PubMed1996

Renal expression of a transforming growth factor-alpha transgene accelerates the progression of inherited, slowly progressive polycystic kidney disease in the mouse.

Polycystic kidney disease (PKD) is a prevalent inherited disease in human beings. The pathogenesis of PKD is as yet unclear. The epidermal growth factor family of proteins has been implicated in PKD based largely on in vitro data. To determine whether these growth factors contribute to the progression of inherited PKD in vivo, we crossed mice with a transgene for human transforming growth factor-alpha (TGF-alpha, a member of the epidermal growth factor (EGF) family) and mice with the pcy gene (which causes a slowly progressive form of PKD very similar to human autosomal dominant PKD). Renal expression of the TGF-alpha transgene in cystic mice (homozygous for the pcy gene) accelerated the development of PKD as shown by an increased kidney weight as a percent of body weight and an increased volume density of renal cysts at 8.5 weeks of age. However, renal expression of the TGF-alpha transgene did not appear to precociously initiate cyst development (at 6.5 weeks), nor did it cause an increase in the final degree of renal enlargement (at 29 weeks). Thus TGF-alpha accelerated the enlargement of cysts once initiated. At 8.5 weeks of age, renal expression of the TGF-alpha mRNA correlated positively with the amount of renal enlargement. At all time points studied, cystic kidneys exhibited increased expression of c-myc mRNA as compared with phenotypic normal kidneys, consistent with PKD being a hyperplastic disease of renal tubules. However, the renal expression of c-myc in 8.5 week cystic kidneys, with or without the transgene, did not correlate with the degree of renal enlargement. The results of this study suggest that EGF-like proteins may accelerate the progression of inherited renal cystic disease. However, the final degree of cystic change is dictated by the primary disease process rather than by the continued presence of growth factor.

Aging↗
PubMed2003

Pseudo-autosomal dominant inheritance of PARK2: two families with parkin gene mutations.

We report two families (Family S and Family N) with early-onset parkinsonism in two generations. The mode of inheritance appeared to be autosomal dominant, however, haplotye analysis suggested linkage to chromosome 6q25.2-27, the PARK2 locus, and all affected members were homozygotes in their haplotypes. In Family S, the affected father was married to unaffected mother, who carried one disease-linked haplotype at chromosome 6q25.2-27. In Family N, the unaffected mother carried one disease-linked haplotype. Quantitative PCR amplification analysis revealed exon 3 deletion in Family S and exon 5 deletion in Family N. The age of onset was from 18 to 22 years in Family S and 25 to 42 years in Family N. In both of their hometowns, most people lived in the same districts for many generations and consanguineous marriages had been common. Thus, the carrier state of the parkin gene might have been high in those communities, and marriage of a patient and a carrier is expected to result in autosomal dominant like inheritance. We conclude that PARK2 cannot be excluded even if the mode of inheritance appears as autosomal dominant, when the affected patients are young.

Aged↗
PubMed2000

Inheritance of pancreatic cancer in pancreatic cancer-prone families.

Families are being increasingly recognized as carrying an inherited susceptibility for pancreatic cancer, apparently unrelated to any currently recognized syndrome. The authors provide a review of the current evidence for familial susceptibility to pancreatic cancer. A formal segregation analysis of the pattern of inheritance of pancreatic cancer in 70 families from the National Registry for Familial Pancreatic Cancer is described. This analysis suggests a single major gene with an autosomal dominant mode of inheritance controlling susceptibility for pancreatic cancer in these families.

Adenocarcinoma↗
PubMed1992

Nontraditional inheritance.

It has become clear in recent years that not all forms of inheritance follow classical mendelian laws regarding the equal contribution from both parents. These nontraditional modes of inheritance and gene expression include cytoplasmic inheritance, mosaicism, uniparental disomy, and genomic imprinting. All of these have been implicated in human genetic disorders and cancers and thus need to be kept in mind when trying to understand unusual observations in the clinic as well as when providing genetic counseling.

Chromosome Aberrations↗
PubMed1996

Inherited breast cancer.

Five to ten percent of breast cancer is attributable to the autosomal dominant inheritance of a high-risk susceptibility gene. There are a number of known inherited cancer syndromes that confer a higher risk of breast cancer. Recently, the BRCA1 gene, which is responsible for 45% of hereditary early-onset breast cancer and for the majority of co-inheritance of breast and ovarian cancer, has been cloned. Another gene that confers an increased risk of breast cancer is the BRCA2 gene, which maps to the long arm of chromosome 13 by linkage analysis. Mutations in BRCA2 account for approximately 40% of hereditary early-onset breast cancer. In addition, at least 7% of breast cancer may occur in women who are heterozygous for mutations in a gene for ataxia-telangiectasia, an autosomal recessive chromosome instability syndrome. Predictive testing for some predisposing conditions is possible through indirect or direct mutation testing. In this article, the genetics of breast cancer are reviewed, and practical concerns for the surgeon in counseling high-risk patients are addressed.

Ataxia Telangiectasia↗
PubMed1987

Inherited abnormalities of the platelet membrane and secretory granules.

Platelet stimulus-activation-contraction-secretion coupling is linked to fundamental modifications in the biochemistry and ultrastructure of the platelet surface and the membranes enclosing storage organelles. It is not surprising, therefore, that membrane defects are common in platelets from patients with inherited hemorrhagic disorders caused by platelet dysfunction. In fact, it might be stated that all inherited disorders of platelet function are related directly or indirectly to abnormalities of membranes. The current review discusses the state of knowledge on inherited platelet membrane defects of the cell surface and storage organelles.

Bernard-Soulier Syndrome↗
PubMed1998

Inherited carcinomas of the kidney.

Studies of families with inherited carcinomas have provided powerful tools to identify the genes involved in the pathogenesis of human cancers. In this review, we summarize the clinical, pathological, and genetic characteristics of the inherited carcinomas of the kidney. We emphasize the observation that different genes predispose to histologically different types of renal carcinoma. Hereditary papillary renal carcinoma, a recently described inherited disorder, is discussed in detail along with the predisposing gene, the MET protooncogene. The data support a classification of renal carcinomas based on molecular genetics.

Adenocarcinoma, Clear Cell↗
PubMed2002

Non-Mendelian inheritance and homology-dependent effects in ciliates.

Ciliates are single-celled eukaryotes that harbor two kinds of nuclei. The germline micronuclei function only to perpetuate the genome during sexual reproduction; the macronuclei are polyploid, somatic nuclei that differentiate from the micronuclear lineage at each sexual generation. Macronuclear development involves extensive and reproducible rearrangements of the genome, including chromosome fragmentation and precise excision of numerous internal sequence elements. In Paramecium and Tetrahymena, homology-dependent maternal effects have been evidenced by transformation of the vegetative macronucleus with germline sequences containing internal eliminated sequences (short single-copy elements), which can result in a specific inhibition of the excision of the homologous elements during development of a new macronucleus in the sexual progeny of transformed clones. Furthermore, transformation of the Paramecium maternal macronucleus with cloned macronuclear sequences can specifically induce new fragmentation patterns or internal deletions in the zygotic macronucleus. These experiments show that the processing of many germline sequences in the developing macronucleus is sensitive to the presence and copy number of homologous sequences in the maternal macronucleus. The generality and sequence specificity of this transnuclear, epigenetic regulation of rearrangements suggest that it is mediated by pairing interactions between zygotic sequences and sequences originating from the maternal macronucleus, presumably RNA molecules. Alternative macronuclear versions of the genome can be maternally inherited across sexual generations, suggesting a molecular model for some of the long-known cases of non-Mendelian inheritance, and in particular for the developmental determination and maternal inheritance of mating types in Paramecium tetraurelia.

Animals↗
PubMed1998

Frequency of inherited bleeding disorders in women with menorrhagia.

BACKGROUND: Although menorrhagia is a common gynaecological symptom, a specific cause is identified in less than 50% of affected women. We investigated the frequency of inherited bleeding disorders in women with menorrhagia. METHODS: Women referred for investigation of menorrhagia whose pelvis was normal on clinical examination and who had an estimated menstrual blood loss of more than 80 mL were studied. A detailed menstrual history and history about other bleeding symptoms was taken. The activated partial thromboplastin time, factor VIII activity, von-Willebrand-factor antigen and activity, and factor XI (FXI) were measured in all patients; further tests were done when results were at or outside the limits of the assays. FINDINGS: 150 women were screened. An inherited bleeding disorder was diagnosed in 26 (17%) patients: the disorders were von Willebrand's disease of mild (15) or moderate severity (three), mild FXI deficiency (four), mild von Willebrand's disease and FXI deficiency (one), combined von Willebrand's disease, FXI deficiency, and factor X deficiency (one), carriage of haemophilia-A gene (one), and platelet dysfunction (one). The frequency of von Willebrand's disease and FXI deficiency were 13% (95% CI 7.9-18.8%) and 4% (1.5-8.5%), respectively. Menorrhagia since menarche was noted in 11 (8.9%) of 123 women without a bleeding disorder compared with 13 (65%) of 20 women with von Willebrand's disease (p=0.001) and four (66.7%) of six women with FXI deficiency (p<0.001). INTERPRETATION: Inherited bleeding disorders are found in a substantial proportion of women with menorrhagia and a normal pelvis examination. We suggest that such patients should be investigated for these disorders-especially von Willebrand's disease-before invasive procedures are done.

Adult↗
PubMed1993

Autosomal dominant inheritance of iridogoniodysgenesis and cataract.

BACKGROUND: There has been only one report in the literature of iridogoniodysgenesis associated with cataracts in two brothers. In that report, the authors conclude that the condition was inherited by autosomal recessive transmission. METHODS: The authors evaluated 10 members in three generations of a family in which there is a striking prevalence of pre-senile hypermature cataract formation and iridogoniodysgenesis. In addition, historical information regarding two deceased members of the family was studied. RESULTS: Six of 10 family members evaluated have iridogoniodysgenesis. Four of five siblings have had pre-senile hypermature cataracts. Despite the iridogoniodysgenesis, there appears to be no association with glaucoma in any of these patients. CONCLUSION: The inheritance pattern of this syndrome appears to be that of autosomal dominance with variable penetrance. The authors believe that this report helps to clarify the inheritance pattern of this previously described hereditary syndrome.

Adolescent↗