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At least 1,639 records · Page 91Linked to original sources
PubMed1997

Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (HMSN type VI) has been described, and the first in which electrophysiological studies have been reported.

Aged↗
PubMed1984

Duodenal diverticula occurring in a family--chance or inheritance?

The incidence, aetiology and possible inheritance of duodenal diverticula remain controversial. These aspects are discussed through the presentation of a family, in which duodenal diverticula occurred in a man and his two sons. To the best of our knowledge, this is the first such family documented in the medical literature. This familial occurrence may be attributed solely to the high incidence of duodenal diverticula in the general population (set by various authors at up to 14.2%), and, therefore, of no hereditary significance at all. We believe a screening study of the families of individuals with proven duodenal diverticula is most desirable, for it could shed light upon the controversial questions of incidence, aetiology, and inheritance patterns of duodenal diverticula.

Aged↗
PubMed1978

The inheritance of ocular colobomata in Charolais cattle.

The examination of approximately 800 pure bred and cross bred Charolais cattle indicated that ocular colobomata is inherited via an autosomal dominant gene in this breed. Penetrance was found to be complete in the male and partial (52 per cent) in the female. Inheritance in the crossbred animals was different to that in the pure bred.

Animals↗
PubMed1980

Inherited renal cysts in pigs: results of breeding experiments.

A landrace boar with a previous history of siring progeny with cystic kidneys was bred to five unrelated large white sows. Thirty-eight of 61 progeny (62 per cent) were affected with renal cysts. This incidence does not differ significantly from that expected with autosomal dominant inheritance. Three of the dams and the boar were found at post mortem examination to have renal cysts. The number of cysts may be determined by polygenic inheritance. Study of the pathology of the cysts in one-day-old, 25- to 32-day-old and 370-day-old progeny indicated a complex pathogenesis including probable recruitment to the cyst population throughout the period studied. The syndrome studied did not resemble previously described polycystic syndromes of the pig nor was it closely comparable to any of the well described polycystic syndromes and renal cystic disorders of man.

Animals↗
PubMed1986

Peripheral neuropathy in cats with inherited primary hyperchylomicronaemia.

Primary hyperlipoproteinaemia (hyperchylomicronaemia) with a slight increase in very low density lipoprotein) is described in 20 cats. Fasting hyperlipaemia, lipaemia retinalis and peripheral neuropathies were the most frequently detected clinical signs. The disease is thought to be inherited as an autosomal recessive trait but the exact mode of inheritance has not been determined. Affected cats showed reduced lipoprotein lipase activity measured after heparin activation compared with the response in normal cats. Plasma triglyceride and cholesterol were increased in all the cats with the major proportion of triglyceride and cholesterol being present in chylomicrons. The peripheral nerve lesions were caused by compression of nerves by lipid granulomata. It is probable that the lipid granulomata result from trauma because the nerves most often affected were at sites like the spinal foraminae where they were susceptible to trauma.

Animals↗
PubMed1999

Studies on the inheritance of hair loss in the Irish water spaniel.

The inheritance of hair loss in Irish water spaniels has been studied by evaluating the inbreeding levels and genetic relationships in a group of affected and unaffected dogs. A detailed study of the pedigree tree of four families revealed a familial predisposition suggesting a dominant mode of inheritance.

Alopecia↗
PubMed2000

Congenital arthrogryposis: an inherited limb deformity in pedigree Suffolk lambs.

Thirty of 52 pedigree Suffolk lambs (58 per cent) were born with arthrogryposis characterised by bilateral flexion rigidity of the metacarpophalangeal and carpal joints. The recent introduction of a breeding ram was identified as the only significant risk factor in the flock, and embryo transfer was used to test the hypothesis that the arthrogryposis was an inherited disorder associated with the introduction of this ram. Two adult ewes that had previously produced lambs with arthrogryposis by the ram and four of its affected daughters were available as donors, and 20 crossbred ewes were used as recipients. Ten Suffolk-crossed ewes that had no known familial relationship with the ram were also mated by the ram as controls and they produced 10 normal lambs. Following embryo transfer, 19 lambs were born, of which seven were stillborn; arthrogryposis was evident in 10 of the 12 live lambs. Analysis of the data suggested that in the population under study, arthrogryposis was inherited as an autosomal recessive condition.

Animals↗
PubMed2002

Inheritance of microsatellite loci in the white sturgeon (Acipenser transmontanus).

Nine tetramer motif (GATA)n microsatellite systems were developed for use in the white sturgeon, Acipenser transmontanus. We report inheritance patterns for these nine systems, which range from one possible disomic system to tetrasomy and octosomy, with some systems containing null alleles. Because of the complex modes of inheritance underlying these systems and the highly duplicated nature of the genome, we propose each allele be scored as its own dominant marker, similar to AFLPs or RAPDs. The utility of this method is validated by the observation that individual alleles within a microsatellite system generally fit the expectation for independent transmission and fit the expected transmission frequency for single copy nuclear markers.

Animals↗
PubMed2004

Isolation and inheritance of microsatellite loci in the Dungeness crab (Brachyura: Cancridae: Cancer magister).

The isolation, PCR amplification, and descriptive statistics of six microsatellite loci are described for the Dungeness crab, Cancer magister. Also reported is the inheritance of these loci in two families obtained from artificial crosses in the laboratory. All six loci conform to expectations under Mendelian inheritance and there is no evidence for linkage between any of the loci. Allelic size ranges for three of the loci are relatively large, ranging from 135-357 bp between the smallest and largest allele detected at that locus. At two of these loci upper allelic drop out (non-amplification of the larger allele in a heterozygous individual) can be problematic for scoring. Results from cross-species amplification in nine congeners are summarized. These loci will be valuable in studies requiring high-resolution genetic markers in Dungeness crabs and related species.

Alleles↗
PubMed1981

Inheritance of allozymes in Atlantic herring (Clupea harengus harengus).

Progeny from single pair crosses of Atlantic herring were examined to determine the heritability of genetic variation at seven polymorphic allozyme loci. Mendelian inheritance of codominant autosomal alleles was established for IDH-2, LDH-1, LDH-2, ME-2, PGM-1, and PGI-2. This demonstration of Mendelian inheritance is essential for accurate interpretation of allozymic variation among natural populations of this pelagic species.

Animals↗
PubMed1987

Expression, inheritance, and linkage relationships among eight enzyme genes in Dermacentor albipictus (Packard) (Acarina: Ixodidae).

Starch gel electrophoresis was used to examine the inheritance, expression, and linkage relationships among eight enzyme genes in the winter tick, Dermacentor albipictus. A fructose-specific hexokinase (FHK), adenylate kinase (ADK), and two forms of aconitase (ACON-A, ACON-C) appeared to have monomeric quaternary structures. A glycylleucine peptidase (PEP), isocitrate dehydrogenase (IDH), and anodally migrating malate dehydrogenase (MDH-A) were apparently dimers. The quaternary structure of glucose phosphate isomerase (GPI) could not be determined because of the similarity in relative mobility of the two available electromorphs. The genes for GPI, FHK, and ADK are located on the X chromosome in the following order: Adk - 37.4 - Gpi - 24.6 - Fhk, with Adk - Fhk being 46.5 map units apart. The remaining five genes were autosomally inherited. Of the 10 possible paired combinations of these genes, only the data for two pairs, Idh-Mdh (44.5% recombinants) and Acon-A--Acon-C (46.4% recombinants), suggested statistically significant linkage.

Animals↗
PubMed1987

Inheritance and expression of tissue-specific catalase activity during development and aging in mice.

The catalase activity in the liver, kidney, lung, and blood hemolysate was measured in newborn, 21-, 70-, 175-, and greater than 400-day-old mice from the strains BALB/c, Csb, C3H/HeSnJ, C3H/S, C57BL/6J, SW, and 129/ReJ. Catalase activity was found to be highest in the liver (approximately 0.33 U/mg protein) followed by the kidney (approximately 0.13 U/mg protein), lung (approximately 0.05 U/mg protein), and blood hemolysate (approximately 0.03 U/mg protein). ANOVA analysis indicated significant differences in enzyme activity among strains and age groups studied. The developmental profiles of enzyme activity were tissue and strain specific. Catalase activity in the blood, for example, was generally higher at birth and at old age, whereas the kidney catalase activity was low at birth and increased substantially with age. Strains could be classified as normal (129/ReJ, BALB/c, C3H/HeSnJ, C3H/S), hypocatalasemic (C57BL/6J, SW), and acatalasemic (Csb) with respect to enzyme activity and it was on this basis that the inheritance of the catalase phenotype was studied using appropriate crosses. The enzyme activity level in each tissue appears to be governed by a unique set of genetic regulators/modifiers that interact with a single structural gene (Cs) or its product to produce the catalase phenotype. Some of these (e.g., Ce-1 and Ce-2) have been previously described but based on the results of various crosses reported here, more must exist that remain still uncharacterized at the molecular level. Models proposed for the inheritance of the catalase phenotype vary in complexity from single allelic differences between strains (e.g., BALB/c x Csb; blood) to a system of multiple interacting genetic determinants (e.g., BALB/c x Csb; liver) each having dominant (e.g., C57BL/6J over BALB/c; liver) and recessive components (e.g., gene(s) conferring the acatalasemic phenotype in BALB/c x Csb; blood and kidney). Such results are important and offer an interesting model to further characterize aspects of eukaryotic gene regulation.

Aging↗
PubMed2005

Many players, one goal: how chromatin states are inherited during cell division.

Replication of genomic material is a process that requires not only high fidelity in the duplication of DNA sequences but also inheritance of the chromatin states. In the last few years enormous effort has been put into elucidating the mechanisms involved in the correct propagation of chromatin states. From all these studies it emerges that an epigenetic network is at the base of this process. A coordinated interplay between histone modifications and histone variants, DNA methylation, RNA components, ATP-dependent chromatin remodeling, and histone-specific assembly factors regulates establishment of the replication timing program, initiation of replication, and propagation of chromatin domains. The aim of this review is to examine, in light of recent findings, how so many players can be coordinated with each other to achieve the same goal, a correct inheritance of the chromatin state.

Adenosine Triphosphate↗
PubMed2003

The establishment, inheritance, and function of silenced chromatin in Saccharomyces cerevisiae.

Genomes are organized into active regions known as euchromatin and inactive regions known as heterochromatin, or silenced chromatin. This review describes contemporary knowledge and models for how silenced chromatin in Saccharomyces cerevisiae forms, functions, and is inherited. In S. cerevisiae, Sir proteins are the key structural components of silenced chromatin. Sir proteins interact first with silencers, which dictate which regions are silenced, and then with histone tails in nucleosomes as the Sir proteins spread from silencers along chromosomes. Importantly, the spreading of silenced chromatin requires the histone deacetylase activity of Sir2p. This requirement leads to a general model for the spreading and inheritance of silenced chromatin or other special chromatin states. Such chromatin domains are marked by modifications of the nucleosomes or DNA, and this mark is able to recruit an enzyme that makes further marks. Thus, among different organisms, multiple forms of repressive chromatin can be formed using similar strategies but completely different proteins. We also describe emerging evidence that mutations that cause global changes in the modification of histones can alter the balance between euchromatin and silenced chromatin within a cell.

Chromatin↗
PubMed2004

Emerging principles of conformation-based prion inheritance.

The prion hypothesis proposes that proteins can act as infectious agents. Originally formulated to explain transmissible spongiform encephalopathies (TSEs), the prion hypothesis has been extended with the finding that several non-Mendelian traits in fungi are due to heritable changes in protein conformation, which may in some cases be beneficial. Although much remains to be learned about the specific role of cellular cofactors, mechanistic parallels between the mammalian and yeast prion phenomena point to universal features of conformation-based infection and inheritance involving propagation of ordered beta-sheet-rich protein aggregates commonly referred to as amyloid. Here we focus on two such features and discuss recent efforts to explain them in terms of the physical properties of amyloid-like aggregates. The first is prion strains, wherein chemically identical infectious particles cause distinct phenotypes. The second is barriers that often prohibit prion transmission between different species. There is increasing evidence suggesting that both of these can be manifestations of the same phenomenon: the ability of a protein to misfold into multiple self-propagating conformations. Even single mutations can change the spectrum of favored misfolded conformations. In turn, changes in amyloid conformation can shift the specificity of propagation and alter strain phenotypes. This model helps explain many common and otherwise puzzling features of prion inheritance as well as aspects of noninfectious diseases involving toxic misfolded proteins.

Amyloid↗
PubMed2002

Golgi architecture and inheritance.

Golgi inheritance proceeds via sequential biogenesis and partitioning phases. Although little is known about Golgi growth and replication (biogenesis), ultrastructural and fluorescence analyses have provided a detailed, though still controversial, perspective of Golgi partitioning during mitosis in mammalian cells. Partitioning requires the fragmentation of the juxtanuclear ribbon of interconnected Golgi stacks into a multitude of tubulovesicular clusters. This process is choreographed by a cohort of mitotic kinases and an inhibition of heterotypic and homotypic Golgi membrane-fusion events. Our model posits that accurate partitioning occurs early in mitosis by the equilibration of Golgi components on either side of the metaphase plate. Disseminated Golgi components then coalesce to regenerate Golgi stacks during telophase. Semi-intact cell and cell-free assays have accurately recreated these processes and allowed their molecular dissection. This review attempts to integrate recent findings to depict a more coherent, synthetic molecular picture of mitotic Golgi fragmentation and reassembly. Of particular importance is the emerging concept of a highly regulated and dynamic Golgi structural matrix or template that interfaces with cargo receptors, Golgi enzymes, Rab-GTPases, and SNAREs to tightly couple biosynthetic transport to Golgi architecture. This structural framework may be instructive for Golgi biogenesis and may encode sufficient information to ensure accurate Golgi inheritance, thereby helping to resolve some of the current discrepancies between different workers.

Animals↗
PubMed2003

Yeast vacuole inheritance and dynamics.

The vacuole/lysosome of the budding yeast Saccharomyces cerevisiae is actively divided between mother and daughter cells. Vacuole inheritance initiates early in the cell cycle and ends in G2, just prior to nuclear migration. The process begins with a portion of the vacuole extending into the emerging bud. This tubular-vesicular entity, the segregation structure, enables continued exchange of vacuole contents between mother and daughter vacuoles. Genetic, biochemical, and cytological analyses of vacuole inheritance have provided insight into the molecular basis of membrane movement, the spatial and temporal control of organelle transport, and the molecular basis of membrane fusion and fission.

Flavoproteins↗
PubMed1996

Inherited diseases of the vasculature.

This review focuses on a spectrum of inherited disorders in which recent genetic advances have made a significant contribution to our understanding of vascular pathology and homeostasis. They are discussed according to the type of blood vessel affected and the compounded physiological processes that include angiogenesis, vascular development, and defects in the structure and regulation of the mature vessel. Vascular malformations, arterial aneurysms and dissection, telangiectasia, infiltrative vascular disease, and inherited tumors and disorders of neovascularization are discussed in a variety of settings. Disease roles for endoglin, tissue inhibitor of metalloproteinases 3 (TIMP3), and vascular endothelial growth factor (VEGF) dysregulation are highlighted (175 references).

Animals↗