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PubMedDate not supplied

Genetics of grain amaranths. II. The inheritance of determinance, panicle orientation, dwarfism, and embryo color in Amaranthus caudatus.

The genetic control of four developmental characters was studied in Amaranthus caudatus L. Determinant panicle growth was determined by one recessive gene. Two major genes governed panicle orientation, with erect panicles incompletely dominant to drooping panicles. Additional modifier genes appeared to alter expression of panicle orientation. A single recessive gene determined dwarfism. Pleiotropy or tight linkage was responsible for abnormal growth of dwarf plants. Pink embryo color was under the control of two complementary epistatic genes with one locus determining the presence or absence of red betalain pigment and the other locus regulating the expression of pigment in developing embryos.

Color↗
PubMed1982

[Genetic study of sensorineural hearing loss].

Genealogical and genetico-statistical analysis of 639 Moscow families with 696 children suffering from sensorineural deafness was carried out. The patients examined constituted 40% of all the registered cases of hearing loss in children under 16. The study showed that monosymptomatic sensorineural deafness in children was more often of a genetic (62,2%), than of an exogenous (37,8%) origin. 54,2% of children with the disease were born from normal parents and 50,9% of all sporadic cases of sensorineural deafness were caused by genetic factors. In 80,8% of cases, inherited sensorineural hearing loss was transmitted, as an autosomal recessive trait, in 18% - as an autosomal dominant trait and in 1,2% - as a recessive X-linked character. The incidence of recessive sensorineural deafness in children of moscow is 1: 2000, that of dominant hearing loss being 1: 10 000. The total frequency of recessive genes is 0,022; the total frequency of heterozygotes of recessive genes is 0,043.

Adolescent↗
PubMed1998

Expression of the recessive glomerulosclerosis gene Mpv17 regulates MMP-2 expression in fibroblasts, the kidney, and the inner ear of mice.

The recessive mouse mutant Mpv17 is characterized by the development of early-onset glomerulosclerosis, concomitant hypertension, and structural alterations of the inner ear. The primary cause of the disease is the loss of function of the Mpv17 protein, a peroxisomal gene product involved in reactive oxygen metabolism. In our search of a common mediator exerting effects on several aspects of the phenotype, we discovered that the absence of the Mpv17 gene product causes a strong increase in matrix metalloproteinase 2 (MMP-2) expression. This was seen in the kidney and cochlea of Mpv17-negative mice as well as in tissue culture cells derived from these animals. When these cells were transfected with the human Mpv17 homolog, an inverse causal relationship between Mpv17 and MMP-2 expression was established. These results indicate that the Mpv17 protein plays a crucial role in the regulation of MMP-2 and suggest that enhanced MMP-2 expression might mediate the mechanisms leading to glomerulosclerosis, inner ear disease, and hypertension in this model.

Animals↗
PubMed2004

Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo.

We previously characterized the patients with autosomal recessive hypercholesterolemia (ARH) as having severe hypercholesterolemia and retarded plasma low-density lipoprotein (LDL) clearance despite normal LDL receptor (LDLR) function in their cultured fibroblasts, and we identified a mutation in the ARH locus in these patients. ARH protein is an adaptor protein of the LDL and reportedly modulates its internalization. We developed ARH knockout mice (ARH-/-) to study the function of this protein. Plasma total cholesterol level was higher in ARH-/- mice than that in wild-type mice (ARH+/+), being attributed to a 6-fold increase of LDL, whereas plasma lipoprotein was normal in the heterozygotes (ARH+/-). Clearance of 125I-LDL from plasma was retarded in ARH-/- mice, as much as that found in LDLR-/- mice. Fluorescence activity of the intravenously injected 1,1'-dioctadecyl-3,3,3',3'-tetramethylindocarbocyanine perchlorate (DiI)-LDL was recovered in the cytosol of the hepatocytes of ARH+/+ mice, but not in those of ARH-/- or LDLR-/- mice. Also, less radioactivity was recovered in the liver of ARH-/- or LDLR-/- mice when [3H]cholesteryl oleyl ether (CE)-labeled LDL was injected. In contrast, uptakes of [3H]CE-labeled LDL, 125I-LDL, and DiI-LDL were all normal or slightly subnormal when the ARH-/- hepatocytes were cultured. We thus concluded that the function of the hepatic LDLR is impaired in the ARH-/- mice in vivo, despite its normal function in vitro. These findings were consistent with the observations with the ARH homozygous patients and suggested that certain cellular environmental factors modulate the requirement of ARH for the LDLR function.

Adaptor Proteins, Signal Transducing↗
PubMed2006

Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?

Hearing impairment is frequently found associated with pigmentary disorders in many syndromes. However, total oculocutaneous albinism (OCA) associated with deafness has been described only once, by Ziprkowski and Adam (Arch Dermatol 89:151-155, 1964) in an inbred family. A syndrome associating deafness and OCA was suggested by the authors, but two separate recessive genes segregating in this inbred group were also proposed later by Fraser (OMIM # 220900). Combined deafness and total OCA were also observed by us in a family originally reported to be nonconsanguineous but in which haplotyping showed evidence of a common ancestry: the proband was affected by both diseases, one of his sisters had only OCA and another sister had only deafness. Both the proband and his deaf sister were found to be homozygotes for the 35delG mutation (GJB2 gene), the most frequent cause of hereditary deafness. Linkage analysis with markers close to the four known OCA loci excluded linkage to OCA1, OCA2, and OCA3, and homozygosity in markers near OCA4 locus was observed. Sequencing of the corresponding gene (MATP) revealed a c.1121delT mutation, which leads to a stop codon at position 397 (L374fsX397). Clearly, the combined occurrence of deafness and albinism in this pedigree was due to mutations in two different genes, showing autosomal recessive inheritance. We speculate that the putative syndrome reported by Ziprkowski and Adam might have resulted from the co-occurrence of autosomal recessive deafness and albinism in the same pedigree, as suggested by Fraser.

Adolescent↗
PubMed1987

Analyses of HLA linkage in white families with multiple cases of seropositive rheumatoid arthritis.

Families with multiple cases of seropositive rheumatoid arthritis (RA), identified through 2 probands with the disease, were analyzed for genetic linkage between an autosomal susceptibility gene for RA and the HLA loci. These analyses were carried out over a wide range of penetrances (0.1-0.4), with prevalence for the disease fixed at 0.01 or 0.04. In some models, a sporadic frequency of 20% was assumed. Close linkage to the HLA loci was ruled out for all models where the gene was autosomal dominant, except for those with low penetrance and with prevalence set at 0.04. The models in which the gene was autosomal recessive produced results similar to those in models where it was autosomal dominant when prevalence was set at 0.01, and close linkage was ruled out, except at very low penetrances. With prevalence set at 0.04, the autosomal recessive gene model produced log odds scores which were all negative (-2.6 to -0.3). Therefore, the evidence in these families does not support close linkage with HLA, even though a significant DR4 RA population association exists. The data suggest that non-major histocompatibility complex (MHC) genes may contribute to the development of RA and, therefore, disease susceptibility may involve the genetic interaction of one or more MHC genes and non-MHC genes, in addition to environmental agents.

Arthritis, Rheumatoid↗
PubMed1981

Splayleg: a spontaneous limb defect in rabbits. Genetics, gross anatomy, and microscopy.

A limb defect in rabbits known as splayleg arose in a closed breeding colony of Dutch rabbits. Since the causes of this postural deformity are not fully understood, an effort was made to clarify the mode of inheritance and the etiology of the disease. Pedigree analysis and genetic mating tests showed that, in contrast to published reports, the disease is not determined by a single recessive gene with complete expressivity. The underlying genetic system is composed of one recessive gene with reduced expressivity or of more genes with the probable involvement of environmental factors. Femurs of abnormal limbs displayed endotorsion of the shaft and anteversion of the neck as the main features. Endotorsion of the femur was associated with exotorsion of the tibia. Dislocation of the hip was not observed. There was no abnormnal laxity of the joint capsule or the ligamentaum teres. Only minor differences in the acetabulum between control and splayleg rabbits were observed. Enzyme histochemistry and electron microscopy of the gluteus medius, adductor longus- and magnus, sartorius, gracilis, and semitendinosus muscles and the femoral, peroneal, and tibial nerves did not reveal any qualitative differences between splayleg and control rabbits. A study on muscle fiber diameter showed that fibers of splayleg animals were in general smaller, particularly in the semitendinosus. Atypical mitochondria of muscles were observed in all rabbits, but more frequently in splayleg animals. A hypothesis is presented in which imbalanced development of the neural, muscular and skeletal systems of the limb is the primary defect. This results in torsion of the femur. It depends on the degree of femoral torsion and the capacity of the young rabbit for compensation by exorotation of the limb in the hip whether a persistent splayleg posture will develop.

Animals↗
PubMed2004

Range of retinal diseases potentially treatable by AAV-vectored gene therapy.

Viable strategies for retinal gene therapy must be designed to cope with the genetic nature of the disease and/or the primary pathologic process responsible for retinal malfunction. For dominant gene defects the aim must be to destroy the presumably toxic gene product, for recessive gene defects the direct approach aims to provide a wild-type copy of the gene to the affected retinal cell type, and for diseases of either complex or unknown genetic origin, more general cell survival strategies that deal with preserving affected retinal cells are often the best and only option. Hence examples of each type of therapy will be briefly discussed in several animal models, including ribozyme therapy for autosomal dominant retinitis pigmentosa in the transgenic P23H opsin rat, beta-PDE gene augmentation therapy for autosomal recessive retinitis pigmentosa in the rd mouse, glial cell-derived neurotrophic factor (GDNF) gene therapy for autosomal dominant RP in the transgenic S334ter opsin rat and pigment epithelial cell-derived neurotrophic factor (PEDF) gene therapy for neovascular retinal disease in rodents. Each employs a recombinant AAV vectored passenger gene controlled by one of several promoters supporting either photoreceptor-specific expression or more general retinal cell expression depending on the therapeutic requirements.

Animals↗
PubMed1996

Genetic fine mapping of the gene for recessive Stargardt disease.

Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly polymorphic markers spanning the critical region has enabled us to refine the location of the underlying gene to a 2-cM region flanked by the loci D1S406 and D1S236. We have identified one 45-year-old nonpenetrant individual who carries two disease alleles. In another family, an affected individual inherited the paternal but not the maternal disease chromosome, suggesting genetic heterogeneity or a different mechanism leading to the disease in this family.

Alleles↗
PubMed2000

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.

Adaptor Proteins, Signal Transducing↗
PubMedDate not supplied

Genetic considerations in human cancer incidence.

Analysis by the methods of genetic demography can offer plausible explanations for the unusual distribution of cancer in an area of high incidence. The important demographic characteristics include inbreeding, founder effect, and racial admixture. Inbreeding would elevate cancer incidence if autosomal recessive genes played a role in cancer etiology. Founder effect would limit this phenomenon to those recessive genes observed in the founding group and result in a cancer spectrum different from that of the surrounding populations. The preference of a racially admixed group for classification as white could result in an excess of cancer patients being classified as white. The population groups in southern Louisiana typify the kind of "human genetics laboratory" that inbred groups offer to investigators of the genetic aspects of cancer.

Adult↗
PubMedDate not supplied

[Sickle cell anemia and malaria--interferences].

Usually in a population the frequency of lethal recessive genes decreases by eliminating the homozygous individuals. In sickle cell disease the decrease of the frequency of mutant recessive genes does not take place. The fact that a gene which in the homozygous state expressed a serious clinical picture reaches a high frequency in a population can be explained only by a process of natural selection that would offer the heterozygous an advantage. Starting from the discovery that the territories where malaria is endemic, the hypothesis that there might be a link between these two disease was put forward. The present essay wishes to synthesise the epidemiological studies and the mechanisms of resistance of heterozygous HbS/HbA to malaria formerly described.

Anemia, Sickle Cell↗
PubMed1982

Genetic control of autoimmune disease: interactions between xid and Ipr.

A genetic experiment has been performed in mice to test the B cell "hyperactivity" hypothesis of autoantibody production. A backcross was designed such that some progeny carried both the sex-linked recessive gene xid, which markedly reduces the B cell hyperactivity and autoantibody production seen in NZB mice, and the autosomal recessive gene Ipr, which produces a severe lymphoproliferative/autoimmune disorder in the homozygous animal. The data indicate that although xid does not preclude any measured phenotypic expression of Ipr/Ipr disease, it may play a minor modulatory role. In addition, a background gene or genes in the CBA/N mouse, distinct from xid, modulates T cell proliferation in male backcross progeny. This experiment supports the view that autoimmune phenomena are fundamentally heterogeneous, and may involve complex cellular interactions.

Animals↗
PubMed1997

Mapping of new recessive cataract gene (lr2) in the mouse.

A new strain of mice with cataracts was developed in BALB/cHeA and STS/A recombinant inbred strain, CXS4 (D). In this study the mapping of spontaneous autosomal recessive cataract mutation is described. This mutation was characterized by ruptures of the lens nucleus, vitreous chamber through the posterior capsule, and the vacuolization of the lens. For the linkage analysis, we produced two kinds of backcross progenies, (BALB/cHeA x D)F1 and (STS/A x D)F1 females crossed to D male mice. The gene (lr2, lens rupture2) was mapped to the central part of Chromosome(Chr) 14, 0.7 +/- 0.7 cM from the micosatellite marker D14Mit28.

Age Factors↗
PubMed1996

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere of chromosome 21. This genetic distance corresponds to <2.4 Mbp. Five marker loci typed from this region gave maximum LOD scores > or = to 3. Homozygosity of marker alleles was evident for only the most telomeric marker, D21S1259, suggesting that DFNB10 is closest to this locus. To our knowledge, this is the first evidence, at this location, for a gene that is involved in the development or maintenance of hearing. As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness.

Chromosome Mapping↗
PubMed1990

[Ragged--a new rexoid mutant rat with large sebaceous gland].

A new hair defected mutant rat was established. This mutant was covered with ragged hair since about 10 days of age, then transiently lost most of hair in the back at approximately 5 weeks of age and re-covered with ragged hair thereafter. Thickened eyerids occurred since about 3 weeks of age. Histological examination revealed enlarged sebaceous glands with greater number of sebaceous cells in the back skin. The oil stained skin samples showed normal sebaceous transformation and pilosebaceous canal. Genetical analysis showed that the ragged hair character was a single recessive trait and indicated that this single recessive gene was not linked with the coat color genes, non-agouti (a), albino (c) and hooded (h). From the present data and previous reports, we recommended this single recessive gene is a new rexoid mutation thereby we termed this gene "Ragged (rg)".

Animals↗
PubMed2001

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.

Deletions ranging from 100 Kb to 1 Mb--too small to be detected under the microscope--may still involve dozens of genes, thus causing microdeletion syndromes. The vast majority of these syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We identified seven patients originating from an extended family and presenting with a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial dysmorphism, and lactic acidemia. Reduced activity of all the respiratory chain enzymatic complexes that are encoded in the mitochondria was found in muscle biopsy specimens of the patients examined. The molecular basis of this disorder is a homozygous deletion of 179,311 bp on chromosome 2p16, which includes the type I cystinuria gene (SLC3A1), the protein phosphatase 2Cbeta gene (PP2Cbeta), an unidentified gene (KIAA0436), and several expressed sequence tags. The extent of the deletion suggests that this unique syndrome is related to the complete absence of these genes' products, one of which may be essential for the synthesis of mitochondrial encoded proteins.

Abnormalities, Multiple↗