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PubMed1990

Familial cystic hygroma with normal karyotype.

A patient is described who had three consecutive fetuses with cystic hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with cystic hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but cystic hygroma may also occur in association with a variety of syndromes, some of which have other patterns of inheritance.

Adult↗
PubMed1972

Genetic variation in activity of enzymes involved in synthesis of catecholamines.

A genetic analysis of differences in adrenal phenylethanolamine N-methyltransferase (EC 2.1.1.X) and tyrosine hydroxylase (EC 1.99.1.X.) and brain tyrosine hydroxylase was performed in three inbred mouse strains. In adrenal glands, the pattern of inheritance of both enzymes was similar; genes carried by the CBA/J strain appeared to be dominant to those of the other strains. The pattern of inheritance of tyrosine hydroxylase activity in adrenals differed from that in the brain. In both tissues, dominant genes appeared to determine intermediate, rather than extreme, levels of enzyme activities.

Adrenal Glands↗
PubMed2003

Epidemiological approaches to the identification of cancer predisposition genes.

The goal of appropriate epidemiologic approaches to identify cancer susceptibility genes is to maximize the potential of identifying causal relationships and minimize the potential that spurious relationships will be found. It is similarly important to target the appropriate approach for the identification of specific types of genes. Germline mutations in high-penetrance genes often confer Mendelian patterns of inheritance, and can be optimally identified by segregation and genetic linkage analysis methods. In contrast, low-penetrance genes may not confer Mendelian patterns of inheritance, and may be involved in cancer etiology only through complex interactions with other genes and exposures. Association studies may be more appropriate means of determining a role for these genes in cancer etiology.

Case-Control Studies↗
PubMed2006

Characteristics of occurrence for Han Chinese familial keloids.

AIM: To elucidate the characteristics of occurrence for Han Chinese familial keloids. METHOD: To find out their common characteristics of occurrence by studying the clinical and genetic information of six Han Chinese pedigrees with familial keloids with all the family members having no recorded marriage history to other races except Han people. RESULT: Most of these familial keloids occur spontaneously during puberty, often displaying symmetrically at chest, back and shoulder with respective specific shapes, presenting with variable clinical expression and incomplete clinical penetrance and showing the characteristics of an autosomal dominant mode of inheritance with reduced penetrance. CONCLUSION: These Han Chinese familial keloids present with many similar characteristics of occurrence differing from those of sporadic cases. The pattern of inheritance observed in these Han Chinese pedigrees with familial keloids is consistent with an autosomal dominant mode with incomplete clinical penetrance and variable expression.

Adolescent↗
PubMed1996

Pyramidal molar roots and canine-like dental morphologic features in multiple family members: a case report.

We report on three cases of unusual dental morphologic characteristics with pyramidal-shaped premolars and fused molar roots occurring in two generations. The dental abnormalities were hereditary in nature with morphologic features similar to those described by others. The features described in the literature were inherited in a pattern suggestive of a polygenic system with incomplete penetrance, although autosomal dominant inheritance with variable expression was possible. The present cases are found in a fashion suggestive of an autosomal dominant inheritance pattern, but insufficient evidence is available to state this for certain. In this case report, we describe a family with the previously stated anomalies and discuss potential causes for their condition as well as their clinical relevance.

Adult↗
PubMed2001

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

PURPOSE: To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN: Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using markers from Xq26-q27, followed by linkage analysis and sequencing of a candidate gene, solute carrier family 25, member 14 (SLC25A14), in four affected individuals from four families linked to this region. RESULTS: The pattern of inheritance in the family was consistent with X-linkage with incomplete penetrance among carrier females. No affected males had affected sons. Based on the extended pedigree, the estimated penetrance among obligate female carriers (daughters of affected males) was 29% (6 of 21). Visual acuity among 15 affected individuals ranged from 20/20 to 20/70 (median 20/30). Clinical examinations, including electroretinography in two individuals, were otherwise normal except for the presence of nystagmus. Significant LOD scores (theta = 0) were found with markers DXS8057, DXS8044, DXS1047, DXS1062, DXS8072, and DXS8078, placing the gene within a approximately 5 cM interval flanked by DXS9909 and DXS1211 on the long arm of the X chromosome. Sequencing the candidate gene SLC25A14 in four affected individuals from four families linked to this region failed to reveal any mutations. CONCLUSIONS: NYS1 appears to be a common gene for familial congenital idiopathic nystagmus. Linkage analysis of this family further reduces the interval in which NYS1 is located.

Age of Onset↗
PubMed1981

gamma-Glutamyl cyclotransferase: a new genetic polymorphism in the mouse (Mus musculus) linked to Lyt-2.

Electrophoretically variant forms of gamma-glutamyl cyclotransferase have been identified in red cells of inbred mouse strains. Each inbred strain exhibited a major band of activity and a minor band that migrated more anodally. The polymorphism affects the migration of both the major and minor bands in a similar way. F1 hybrids between strains with fast forms (A/J) and strains with the slow forms (C57BL/6J) exhibited a four-banded pattern consistent with co-dominant inheritance. The patterns observed in backcross and F2 mice were consistent with the segregation of a pair of autosomal co-dominant alleles. Recombinant inbred strains and a congenic strain were used to show that the locus controlling gamma-glutamyl cyclotransferase (Ggc) is linked to Lyt-2, a lymphocyte alloantigen locus on chromosome 6, with an estimated map distance of 5.0 +/- 2.5 centimorgans.

Animals↗
PubMed2026

Systematic identification of germ granule proteins reveals specialized roles in RNAi and small RNA inheritance.

Biomolecular condensates, such as germ granules, organize RNAi pathways critical for fertility and genome regulation. However, the protein composition and functional contributions of these condensates remain poorly defined. Here, we applied TurboID proximity labeling to the Caenorhabditis elegans germ granule protein SIMR-1, integrating mass spectrometry with genetic screening, CRISPR-based tagging, and small RNA sequencing. This systematic approach identified several previously uncharacterized germ granule proteins that contribute to fertility, germline immortality, exogenous RNAi, and transgenerational inheritance. Small RNA sequencing of 21 mutants revealed broad and class-specific defects in siRNA and miRNA biogenesis, with distinct factors associated with defects in WAGO-class 22G-RNAs, CSR-class 22G-RNAs, or histone-directed small RNAs. Among these, we identified PINT-1, a highly disordered protein that directly interacts with and is recruited to germ granules by the PIWI Argonaute PRG-1. PINT-1 is required for piRNA-dependent and -independent secondary siRNA biogenesis and germline development. Comparative genomics revealed that PINT-1 has coevolved with PRG-1 across clade V nematodes, with a conserved structured N terminus and a rapidly diverging repeat-rich intrinsically disordered region. Together, our findings expand the germ granule proteome and reveal how distinct condensate components contribute to specialized functions within the small RNA pathways, while highlighting an evolutionarily coadapted PIWI interactor critical for siRNA biogenesis.

Animals↗
PubMed1991

The inheritance of alcohol consumption patterns in a general population twin sample: I. Multidimensional scaling of quantity/frequency data.

Quantity/frequency data on alcohol consumption were obtained by mailed questionnaire from 2,903 same-sex monozygotic and dizygotic Australian twin pairs. Nonmetric multidimensional scaling was applied to these data. A three-dimensional solution was required to account for the observed pattern of twin concordances for alcohol consumption. These results suggest separate determination of abstinence, frequency of consumption and quantity consumed when drinking, rather than inheritance of a single continuum of overall consumption level.

Adolescent↗
PubMed1988

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.

This paper compares erythrocyte nucleotide levels in patients with eight different inherited purine or pyrimidine enzyme defects identified amongst a variety of patients referred predominantly for investigation of severe neurological abnormalities, or immunodeficiency syndromes. Characteristic nucleotide patterns were identified only in the six disorders (four involving purine and two pyrimidine metabolism) where there was clinical evidence of cellular toxicity. They were frequently related to the accumulation of abnormal metabolites in body fluids. These erythrocyte studies have demonstrated the following. 1. ATP depletion is not an invariable feature of adenosine deaminase (ADA) deficiency, but the accumulation of the deoxyribonucleotides dATP, or dGTP, is diagnostic of ADA, or purine nucleoside phosphorylase (PNP) deficiency, respectively. The early accumulation of dATP in foetal blood is a valuable aid to prenatal diagnosis of ADA deficiency. 2. GTP depletion appears to reflect the degree of CNS involvement in hypoxanthine-guanine phosphoribosyltransferase and PNP deficiency, as well as PP-ribose-P synthetase superactivity. Other diagnostic changes involving increased pyrimidine sugars and increased or decreased NAD levels, or ZTP in Lesch Nyhan erythrocytes, show no consistent correlation with the clinical manifestations. 3. These altered nucleotide levels afford a novel means for carrier detection of the X-linked defect associated with aberrant PP-ribose-P synthetase activity, where no other test is yet available. Measurement of erythrocyte nucleotide levels thus provides a simple and rapid aid to diagnosis and may sometimes be essential for determining prognosis, carrier detection, or monitoring therapy. These characteristic 'fingerprints' may give some insight into the mechanism by which the abnormal gene product produces disease. Such grossly altered nucleotide levels could also result in loss of erythrocyte flexibility, increased destruction and hence the anaemia, or other clinical manifestations, observed in some disorders.

Adenosine Diphosphate↗
PubMed2003

[Inheritance and segregation of transformants in cotton with two types of insect-resistant genes].

A plant expression vector containing a chemeric Bt29K gene coding for the active Cry1Ac protein and the arrowhead proteinase inhibition gene API-B was introduced into an elite cotton cultivar Jihe 321 by Agrobactertium tumefaciens. Some insect-resistant cotton lines were developed. Segregation and stabilization of insect-resistant genes in six transformation lines were studied. Based on the results of kanamycin resistant test and insect bioassay using Heliethis armigera, PCR detection and Southern-blot, we found that the inheritance and segregation of Bt gene were complicated, some transformants were in accordance with Mendelian patterns of inheritance in the ratio of insect-resistant plants to non-resistant plants in Ti progeny, yet others were non-Mendelian patterns. But the inheritance and segregation of Bt gene in homozygous transformation lines were one or two pairs of major dominant genes through crossing of insect resistant homozygous lines with non-transformation cotton variety. That the insect resistance phenotype was conditioned by one or two pairs of dominant genes was ascertained in this study. There were two copies of Bt genes in two transformation lines DR248 and DR193, which was reported for the first time. The results were confirmed by Southern-blot. Through observation of segregation population of transgenic plants at different generations, we found that the exogenous Bt gene in cotton genome showed unstable in inheritance in early generations, but the gene could be stabilized through resistance screening generation by generation. The unstability of Bt gene may mean that it need time for the gene to compatibilize cotton genome.

Animals↗
PubMed2001

Male accessory gland secretory proteins in a few members of the Drosophila nasuta subgroup.

Male accessory gland secretory proteins in seven members of the Drosophila nasuta subgroup have been analyzed by SDS-PAGE. The study revealed remarkable simplicity in the patterns. The protein fractions, which migrate in three groups, could be categorized as "major" and "minor." The number of major fractions varies from a maximum of eight to a minimum of four. Group I consists of high molecular weight fractions, and group III, low molecular weight fractions. Among different members analyzed, the variation with respect to pattern and the number of fractions are confined largely to group III protein fractions, while group I and II fractions are found to be conserved to a greater extent. These proteins are PAS positive and group III fractions are not sensitive to silver staining. Analysis of these tissue specific proteins in the F1 and F2 of interspecific crosses and backcross progeny as well as volume analysis revealed that a 26-kD fraction in D. n. nasuta follows an autosomal pattern of inheritance, while a 55-kD and a 25-kD fraction in D. n. albomicans and a 24-kD fraction in D. n. kepulauana follow an X-linked pattern of inheritance.

Animals↗
PubMed1993

Familial hypobetalipoproteinaemia: a rare presentation to the lipid clinic.

OBJECTIVE: To report a case of familial hypobetalipoproteinaemia in a woman who presented after the incidental finding of marked hypocholesterolaemia during laboratory tests. CLINICAL FEATURES: An asymptomatic 37-year-old Lebanese woman presented to the lipid clinic with a serum total cholesterol concentration of 1.1 mmol/L, high density lipoprotein (HDL) cholesterol of 1.0 mmol/L, and triglycerides of 0.28 mmol/L. No secondary cause for the hypocholesterolaemia was established. INVESTIGATION AND OUTCOME: Her serum apolipoprotein B (apo B) levels were markedly reduced at 0.07 g/L. Except for one daughter (IV-4), all other family members including her husband (her first cousin) had apo B levels about 25% of normal. Daughter IV-4 had undetectable apo B levels. Family studies confirmed an autosomal dominant pattern of inheritance consistent with familial hypobetalipoproteinaemia. CONCLUSION: Familial hypobetalipoproteinaemia is a rare condition that should be considered in the differential diagnosis of hypocholesterolaemia. Absence of clinical features, autosomal dominant pattern of inheritance, and reduced apo B levels suggest the diagnosis.

Adolescent↗
PubMed1987

Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family.

Size distribution curves of red blood cells were used to detect the presence of microcytes in peripheral blood of members of a Dutch family with hereditary sideroblastic anaemia. 22 of 49 members of this family have a bimodal erythrocyte volume distribution curve and a dimorphic blood picture. The pattern of inheritance of this morphological abnormality is clearly autosomal. It is suggested that the study of red blood cell size distribution curves may add valuable information on the pattern of inheritance in other families with hereditary sideroblastic anaemia.

Adolescent↗
PubMed2002

Early endosomes, late endosomes, and lysosomes display distinct partitioning strategies of inheritance with similarities to Golgi-derived membranes.

The pattern of inheritance of compartments of the endocytic pathway has been rarely reported, and the precise mechanism(s) are yet to be elucidated. We used antibodies reactive to early endosomes (anti-EEA1), late endosomes (anti-LBPA and anti-LAMP-1), lysosomes (anti-LAMP-1) and trans-Golgi network (TGN) (anti-GOLGA4) to examine the inheritance of these compartments in fixed human HEp-2 cells. Prior to entering M phase, these compartments display a perinuclear bias in their cytoplasmic distribution with areas of local accumulation juxtaposed to the centrosome. The location of these compartments during mitosis was examined relative to each other, the chromosomes, centrosomes and the microtubule network. During M phase early endosomes and TGN-derived compartments share overlapping subcellular distributions. A portion of these compartments display discernible clustering around the separated and migrating centrosomes in prophase. At metaphase these compartments co-localise with the mitotic spindle, are absent at the metaphase plate and do not overlay the astral microtubules. At anaphase these compartments are concentrated between shortening kinetochore microtubules and centrosomes. In addition, they appear distributed over the elongating polar microtubules in the body of the cell. From telophase and into cytokinesis these compartments concentrate around the minus ends of the constricted remnants of polar spindle microtubules and re-establish a prominent presence juxtaposed to the centrosome. In contrast, there is little evidence of movement of late endosomes and lysosomes with migrating centrosomes in prophase, and these compartments are excluded from the mitotic spindle at metaphase. However, by the end of telophase, the subcellular distribution of a portion of late endosomes and lysosomes share overlapping distributions with that of early endosomes. We conclude a portion of endosomal compartments and Golgi-derived membranes undergo ordered partitioning based on the centrosome and mitotic spindle.

Animals↗
PubMed1980

Distribution and inheritance of low serum thyroxine-binding globulin levels in Australian Aborigines: a new genetic variation.

Evidence is presented that low serum thyroxine-binding globulin (TBG) levels in Aborigines are widely distributed throughout Australia, and that these are inherited rather than acquired. Levels of TBG in children, and lack of any correlation of low TBG levels with alcohol consumption or liver dysfunction, suggest that the low levels are not acquired in adult life. Genetic studies in eight families indicate (with one exception) an autosomal dominant pattern of inheritance with direct male-to-male transmission. These findings are in marked contrast to the much rarer X-linked pattern of inheritance of low TBG levels in Caucasians. This type of prevalent and inherited low level of TBG in serum appears so far to be unique to the Aboriginal race. The synthesis (or degradation) of TBG may be controlled by an autosomal gene in Aborigines.

Adolescent↗
PubMed1988

Patterns of mating and mitochondrial DNA inheritance in the agaric Basidiomycete Coprinus cinereus.

Patterns of mating and mitochondrial DNA (mtDNA) inheritance were investigated for the Basidiomycete, Coprinus cinereus in order to better understand the relationship of reproductive biology and mtDNA evolution in fungi. Results showed that the unique mating system of basidiomycetes can lead to the formation of mitochondrial mosaics (i.e., colonies composed of sectors differing in mtDNA). Mitochondria do not migrate along with nuclei during mating. Intracellular mixed or recombinant mtDNA molecules were not observed. Interestingly, it was found that mating asymmetry, caused by nonreciprocal nuclear migration, may be an important part of the reproductive biology of C. cinereus.

Agaricales↗
PubMed2004

Genetic analysis of benzoquinone production in Tribolium confusum.

Many species of tenebrionid beetles produce and secrete benzoquinones from specialized prothoracic and postabdominal glands. Tribolium confusum produces two compounds methyl-1,4-benzoquinone (MBQ) and ethyl-1,4-benzoquinone (EBQ). These compounds are hypothesized to function as external defense compounds, killing microbes and deterring predators, and their ability to evolve by natural selection depends on both selection and the genetic vs. environmental contribution to phenotypic variation. We crossed a strain of T. confusum that produces high quantities of benzoquinones, b-Pakistan, with a low-producing strain, b-+, and measured both the internal and external quantities of MBQ and EBQ for the two extreme strains and their F1 progeny. Internal amounts show a clear pattern of inheritance, with at least 50% of the phenotypic variation attributed to genotype. Additive and dominance coefficients for internal amounts indicate that the trait is additive with no significant dominance. In contrast, external quantities show little pattern of inheritance. The role of genetics and environment in determining quantities of secretory defensive compounds is important to elucidating the ecology and evolutionary potential of chemical defenses.

Adaptation, Physiological↗