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PubMed1977

Inheritance of lipopolysaccharide-enhanced nonspecific resistance to infection and of susceptibility to endotoxic shock in lipopolysaccharide low-responder mice.

In a previous study, we demonstrated that lipopolysaccharide (LPS) and other bacterial immunostimulants, in contrast to their activity in a closely related high-responder subline, failed to elicit nonspecific resistance in LPS low-responder mice against Klebsiella pneumoniae infection. To investigate the type of inheritance controlling the LPS-induced nonspecific resistance to infection, the present study was performed in low- and high-responder C3H sublines and in F1 and F2 hybrids. In addition, F1 mice were backcrossed to each parental type. Inheritance of susceptibility to endotoxin was also tested in both sublines and their hybrids and backcross progeny. For these latter assays, mice were previously adrenalectomized because removal of this gland considerably enhances their sensitivity. Our present findings are consistent with the hypothesis that LPS enhances nonspecific resistance to infection and that susceptibility to endotoxin shock in the absence of corticoids may be determined by a single autosomal dominant gene.

Adrenalectomy↗
PubMed1990

Major histocompatibility complex-conferred resistance to Theiler's virus-induced demyelinating disease is inherited as a dominant trait in B10 congenic mice.

Intracerebral inoculation of Theiler's murine encephalomyelitis virus into susceptible strains of mice produces chronic demyelinating disease in the central nervous system characterized by persistent viral infection. Immunogenetic data suggest that genes from both major histocompatibility complex (MHC) and non-MHC loci are important in determining susceptibility or resistance to demyelination. The role of the MHC in determining resistance or susceptibility to disease can be interpreted either as the presence of antigen-presenting molecules that confer resistance to viral infection or as the ability of MHC products to contribute to pathogenesis by acting as viral receptors or by mediating immune attack against virally infected cells. These alternatives can be distinguished by determining whether the contribution of the MHC to resistance is inherited as a recessive or dominant trait. Congenic mice with different MHC haplotypes on identical B10 backgrounds were crossed and quantitatively analyzed for demyelination, infectious virus, and local virus antigen production. F1 hybrid progeny derived from resistant B10 (H-2b), B10.D2 (H-2d), or B10.K (H-2k) and susceptible B10.R111 (H-2r), B10.M (H-2f), or B10.BR (H-2k) parental mice exhibited no or minimal demyelination, indicating that on a B10 background, resistance is inherited as a dominant trait. Although infectious virus, as measured by viral plaque assay, was cleared inefficiently from the central nervous systems of resistant F1 hybrid progeny mice, we found a direct correlation between local viral antigen production and demyelination. These data are consistent with our hypothesis that the immunological basis for resistance is determined by efficient presentation of the viral antigen to the immune system, resulting in local virus clearance and absence of subsequent demyelination.

Animals↗
PubMed1999

Dual role of the mitochondrial chaperone Mdj1p in inheritance of mitochondrial DNA in yeast.

Mdj1p, a homolog of the bacterial DnaJ chaperone protein, plays an essential role in the biogenesis of functional mitochondria in the yeast Saccharomyces cerevisiae. We analyzed the role of Mdj1p in the inheritance of mitochondrial DNA (mtDNA). Mitochondrial genomes were rapidly lost in a temperature-sensitive mdj1 mutant under nonpermissive conditions. The activity of mtDNA polymerase was severely reduced in the absence of functional Mdj1p at a nonpermissive temperature, demonstrating the dependence of the enzyme on Mdj1p. At a permissive temperature, the activity of mtDNA polymerase was not affected by the absence of Mdj1p. However, under these conditions, intact [rho(+)] genomes were rapidly converted to nonfunctional [rho(-)] genomes which were stably propagated in an mdj1 deletion strain. We propose that mtDNA polymerase depends on Mdj1p as a chaperone in order to acquire and/or maintain an active conformation at an elevated temperature. In addition, Mdj1p is required for the inheritance of intact mitochondrial genomes at a temperature supporting optimal growth; this second function appears to be unrelated to the function of Mdj1p in maintaining mtDNA polymerase activity.

DNA, Fungal↗
PubMed1982

Nuclear inheritance of erythromycin resistance in human cells: new class of mitochondrial protein synthesis mutants.

The characterization of two new erythromycin-resistant mutants of HeLa cells is described. The strains ERY2305 and ERY2309 both exhibited resistance to erythromycin in growth assays and cell-free mitochondrial protein synthesis assays. The erythromycin resistance phenotype could not be transferred by cybridization. The mutation appeared to be encoded in the nucleus and inherited as a recessive trait. These two mutants, therefore, represent a new class of erythromycin-resistant mutants in human cells that is distinct from the cytoplasmically inherited mutation in strain ERY2301 described previously.

Cell Division↗
PubMed2004

Mutation of a single CTCF target site within the H19 imprinting control region leads to loss of Igf2 imprinting and complex patterns of de novo methylation upon maternal inheritance.

The differentially methylated imprinting control region (ICR) region upstream of the H19 gene regulates allelic Igf2 expression by means of a methylation-sensitive chromatin insulator function. We have previously shown that maternal inheritance of mutated (three of the four) target sites for the 11-zinc finger protein CTCF leads to loss of Igf2 imprinting. Here we show that a mutation in only CTCF site 4 also leads to robust activation of the maternal Igf2 allele despite a noticeably weaker interaction in vitro of site 4 DNA with CTCF compared to other ICR sites, sites 1 and 3. Moreover, maternally inherited sites 1 to 3 become de novo methylated in complex patterns in subpopulations of liver and heart cells with a mutated site 4, suggesting that the methylation privilege status of the maternal H19 ICR allele requires an interdependence between all four CTCF sites. In support of this conclusion, we show that CTCF molecules bind to each other both in vivo and in vitro, and we demonstrate strong interaction between two CTCF-DNA complexes, preassembled in vitro with sites 3 and 4. We propose that the CTCF sites may cooperate to jointly maintain both methylation-free status and insulator properties of the maternal H19 ICR allele. Considering many other CTCF targets, we propose that site-specific interactions between various DNA-bound CTCF molecules may provide general focal points in the organization of looped chromatin domains involved in gene regulation.

Animals↗
PubMed1986

Inheritance of DNA methylation in Coprinus cinereus.

We examined the inheritance of 5-methylcytosine residues at a centromere-linked locus in the basidiomycete Coprinus cinereus. Although methylated and unmethylated tracts were inherited both mitotically and meiotically the lengths of these tracts were variable. This variation was not confined to any one phase of the life cycle of the organism, and it usually involved the simultaneous de novo methylation of at least four HpaII-MspI sites. We also found that the higher levels of methylation at this locus were transmitted through meiosis, regardless of the level of methylation of the homologous chromosome.

5-Methylcytosine↗
PubMed2006

The incidence of inherited metabolic disorders in the West Midlands, UK.

BACKGROUND: Inherited metabolic disorders (IMDs) are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality. AIMS: To obtain up-to-date estimates of the birth prevalence of IMDs in an ethnically diverse British population and to compare these estimates with those of other published population-based studies. METHODS: Retrospective data from the West Midlands Regional Diagnostic Laboratory for Inherited Metabolic Disorders (Birmingham, UK) for the 5 years (1999-2003) were examined. The West Midlands population of 5.2 million is approximately 10% of the UK population. Approximately 11% of the population of the region is from black and ethnic minority groups compared with approximately 8% for the the UK. RESULTS: The overall birth prevalence was 1 in 784 live births (95% confidence interval (CI) 619 to 970), based on a total of 396 new cases. The most frequent diagnoses were mitochondrial disorders (1 in 4929; 95% CI 2776 to 8953), lysosomal storage disorders (1 in 5175; 95% CI 2874 to 9551), amino acid disorders excluding phenylketonuria (1 in 5354; 95% CI 2943 to 9990) and organic acid disorders (1 in 7962; 95% CI 3837 to 17 301). Most of the diagnoses (72%) were made by the age of 15 years and one-third by the age of 1 year. CONCLUSIONS: These results are similar to those of the comparison studies, although the overall birth prevalence is higher in this study. This is probably due to the effects of ethnicity and consanguinity and increasing ascertainment. This study provides useful epidemiological information for those planning and providing services for patients with IMDs, including newborn screening, in the UK and similar populations.

Adolescent↗
PubMed1994

Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.

Three children with an unusual but clearly defined combination of clinical findings that appear to have been inherited in an autosomal recessive manner are described. All had developed laryngeal abnormalities, chronic skin ulceration, nail dystrophy, and conjunctival disease in infancy. In every case, dental enamel was hypoplastic and both skin and mucosal surfaces demonstrated increased susceptibility to trauma. Progression of disease occurred, to life threatening respiratory obstruction in two cases and to effective blindness and fatal respiratory obstruction in the third child. All of these children came from the Pakistani ethnic group. No medical treatment has halted progression of this disease but laser therapy has been partially successful in alleviating laryngeal manifestations. Ultrastructural and immunohistological examination of unaffected skin was undertaken in each child. No abnormality was found in the child with the mildest clinical disease. Both of the other children showed abnormal hemidesmosomes on ultrastructural examination. The most severely affected child also had abnormally weak immunoreactivity with antibodies G71 and GB3 directed against basal cell alpha 6 beta 4 integrin and the basement membrane glycoprotein nicein respectively. These abnormal findings are also seen in skin from patients with junctional epidermolysis bullosa. These three children have the laryngo-onycho-cutaneous syndrome, which may not be rare in their ethnic group. The available clinical and pathological evidence is consistent with this syndrome being caused by an inherited defect affecting the lamina lucida of the skin basement membrane zone. The laryngo-onycho-cutaneous syndrome may therefore represent a new and distinctive type of junctional epidermolysis bullosa.

Child, Preschool↗
PubMed2006

Genetic characterisation of spontaneous ankylosing arthropathy with unique inheritance from Fas-deficient strains of mice.

BACKGROUND: The spontaneous onset of macroscopic arthropathy in the ankle of the particular F1 mice descended from two Fas-deficient strains of mice; a mutant substrain of MRL/Mp.Fas(lpr) (MRL/rpl) and C3H/He.Fas(lpr) (C3H/lpr) was recently observed. AIM: To histopathologically characterise and genetically interpret the unique inheritance mode of disease in this arthropathy model. METHODS: MRL/rpl, C3H/lpr, (MRL/rpl x C3H/lpr; MC) F1, (C3H/lpr x MRL/rpl; CM) F1 and MCF2 mice were bred under specific pathogen-free conditions. Histopathological grade of arthropathy was determined at 6 months by examination under a light microscope. To search for a linkage locus to the arthropathy, the whole genome of selected 48 male MCF2 mice with 71 polymorphic microsatellite markers was scanned, followed by quantitative trait locus analysis. RESULTS: The incidence of microscopically defined arthropathy in the male and female MCF1 groups was 100% and 19.4%, respectively. No incidence was observed in the parental strains, MRL/rpl and C3H/lpr, and in CMF1 mice. In the MCF1 mice, the arthropathy mainly affected the ankle joints and was histopathologically characterised by marked entheseal proliferation with chondrocytic differentiation and ossification in the ankle joints, the manifestations similar to ankylosing enthesitis reported previously. An MRL/rpl-derived autosomal dominant susceptibility locus was mapped in the distal of D7Mit68 (60 cM) to the ankylosis onset. CONCLUSION: The MCF1 mice stably develop spontaneous ankylosing disorders in the ankle, with a male predominance. The unique inheritance mode of ankylosis is possibly interpreted by the genetic interaction between the autosomal dominant locus and a Y-linked locus.

Animals↗
PubMed1986

Genetic analysis of families of patients with Behçet's syndrome: data incompatible with autosomal recessive inheritance.

Data on families with Behçet's syndrome were analysed to test a hypothesis of autosomal recessive inheritance. Fifteen families from the UK and nine from Turkey were included. There were 27 individuals with Behçet's syndrome according to the Japanese criteria and 119 unaffected individuals. There were no affected parents in the families. The 'goodness of fit' test of Elandt-Johnson was applied to the distribution of affected individuals in these families, and the data were found to be incompatible with autosomal recessive inheritance. HLA associations were also examined in patients and relatives, and this led to re-examination of previously published data on HLA associations with Behçet's syndrome.

Behcet Syndrome↗
PubMed1992

Contribution of inherited factors to rheumatoid arthritis.

A total of 231 sibships of the same sex (186 female, 45 male), in which the proband had classical or definite rheumatoid arthritis (RA) have been selected from rheumatology clinics. Each sibship member was questioned about symptomatic joints, which were then examined. Hospital records, radiographs, and rheumatoid factor measurements allowed each sibling to be classified as having classical, definite, probable, or no RA. Each sibling was typed for HLA-A and B and was classified as sharing two, one, or zero HLA haplotypes with the proband. Concordance rates for classical and definite RA were three times greater in sibships of women than of men (9.3 v 3.0%). Concordance rates in HLA identical sibships were twice those in hemi- and non-identical sibships (15.5, 7.1, and 5.2%, respectively). Probable RA was more common in male and HLA hemi- and non-identical sibships. These results suggest that female sex and the two inherited HLA haplotypes are important for the presence and expression of RA. Although environmental factors may be shared more in twins than siblings, a concordance rate of 20.5% in seropositive HLA identical sibships of the same sex compared with 30% in monozygotic twins suggests that sex and HLA type account for about two thirds of the inherited risk of RA.

Arthritis, Rheumatoid↗
PubMed1992

Diversity and pattern of inheritance of autoantibodies in families with multiple cases of systemic lupus erythematosus.

The pattern of inheritance of autoantibodies in eight families chosen from a pool of 110 families of patients with systemic lupus erythematosus (SLE) is described. In all the eight families at least two members were already affected by SLE. In total, 19 patients and 43 first degree relatives were examined. The inheritance of a large set of antinuclear antibodies (for example, DNA, Sm, RNP, Ro, La, histones) and 16/6 idiotype seemed to be related to some unknown genetic factors but not related to HLA. The presence of numerous antinuclear autoantibodies in the serum of a subject was not necessarily associated with overt disease. The incidence of the 16/6 idiotype among patients and their relatives was low. It is not yet clear whether the 'autoantibody burden' is greater in families with multiple cases of SLE than in families with single cases.

Antibody Diversity↗
PubMed2000

Report of a family with dominantly inherited upper lid entropion.

AIM: To report the occurrence of late onset, bilateral, idiopathic upper lid entropion, occurring in three members of the same family, with a known family history. METHODS: Five family members were examined, and a history taken, at Moorfields Eye Hospital. Three patients were treated surgically, and one also had a tarsoconjunctival biopsy. RESULTS: In all cases, no aetiology was found. The family history suggests an autosomal dominant inheritance pattern. All patients were treated with anterior lamellar repositioning, and had optimal results. CONCLUSION: The family reported seems to be affected by a familial form of primary acquired upper lid entropion, that shows an autosomal dominant inheritance pattern.

Adolescent↗
PubMed1978

Chlorpropamide-alcohol flushing: a dominantly inherited trait associated with diabetes.

A simple test was devised to identify people susceptible to chlorpropamide-alcohol flushing (CPAF). Subjects were given a placebo tablet, followed by sherry 12 and 36 hours later. They then received a chlorpropamide tablet and sherry again after 12 and 36 hours. This single-dose challenge test was given to non-insulin-dependent diabetics, insulin-dependent diabetics, and normal subjects. CPAF was common in the non-insulin-dependent diabetics but rare in the other groups. When the test was used in identical twins and families of affected subjects CPAF appeared to be a dominantly inherited trait. We conclude that facial flushing after alcohol in people taking chlorpropamide is related to non-insulin-dependent diabetes, especially when there is a strong family history of diabetes, but not to insulin-dependent diabetes. It is a dominantly inherited trait.

Adolescent↗
PubMed1982

Mode of inheritance of hypertrophic cardiomyopathy in Iceland. Echocardiographic study.

We used an abnormally thick interventricular septum (greater than or equal to 1.3 cm) as an echocardiographic marker to find the inheritance pattern of hypertrophic cardiomyopathy among relatives of eight patients who had that disease at necropsy. Forty normal subjects served as a control group. Fifty-eight family members were examined and 18 (41%) of the 44 first degree relatives had hypertrophic cardiomyopathy. The overall inheritance pattern was consistent with an autosomal dominant genetic disorder and in one family a recessive trait could be excluded. The diagnosis of hypertrophic cardiomyopathy can be difficult clinically as only 13% of our patients had serious symptoms and only 30% had abnormal auscultatory findings. The electrocardiogram is a useful screening test among relatives as it was abnormal in 20 (87%) of those who had an abnormally thick septum. Symmetric septal hypertrophy was found in 30% of patients with cardiomyopathy in this study and only 17% had clinical evidence of obstruction.

Adolescent↗
PubMed2005

Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG).

Family members in multiple generations of an Irish-American family were investigated for moderate to severe microcytic anaemia, inherited in an autosomal dominant fashion. A novel frameshift mutation of the beta globin gene was discovered. This study highlights the importance of considering dominantly inherited beta thalassemia in the investigation of anaemia, even in patients with ethnic backgrounds not usually associated with beta thalassaemia.

Adult↗
PubMed1984

Simultaneous inheritance and expression of classical haemophilia A and type IIA von Willebrand's disease.

A family is described in which the mother is a haemophilia carrier, the father has asymptomatic type IIA von Willebrand's disease, and their second son has simultaneously inherited both severe haemophilia and type IIA von Willebrand's disease. This is the first report of both diseases occurring simultaneously. The inheritance patterns and laboratory data on the family are presented and discussed.

Antigens↗
PubMed1980

The mode of inheritance of blood pressure levels.

In a sample of 465 families living in a suburb of north-west London the systolic and diastolic blood pressure consistently showed a greater correlation for sib/sib (0.16 to 0.28) than for parent/offspring (0.07 to 0.18); this pattern is consistent with the hypothesis of a dominance component in the inheritance of blood pressure assuming there is no difference in the interaction between environment and genes in people of different ages. This assumption was examined by studying the sib/sib correlation according to the age gap between sibs; for diastolic blood pressure this remained almost the same but for systolic blood pressure the correlation tended to diminish as the age gap increased. A dominance component in the inheritance of blood pressure levels could explain the sort of results we have found in this study. However, we cannot ignore the fact that similar results could be obtained if the contribution of the environment within the same generation of relatives differs from that of the environment shared by all relatives.

Age Factors↗