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Results for “Genes, Recessive”

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At least 253 records · Page 14Linked to original sources

PubMed1975

Extra-large Tribolium confusum: a new autosomal recessive mutant.

A new mutant of Tribolium confusum Jacquelin duVal (Coleoptera: Tenebrionidae), extra-large (designated xl), was isolated in mating competition tests with red-eye (re) and wild-type (+). Crosses showed that it was autosomal recessive gene with subvital effects. The pupal weights averaged 6.1 and 7.3 mg for males and females, respectively, about twice the weights of the ancestral wild-type. The generation time (egg to adult) was approximately 8 to 9 weeks compared with about 4 weeks for the wild-type. This increase resulted from a lengthening of the larval stage since the durations of the egg and pupal stages were within the ranges of the wild-type. Mean longivity of xl males and females was reduced to 8.5 and 6.0 weeks, respectively at 26.7 +/- 1 degree C and 60% RH.

Animals↗

PubMed1977

Sex-limited and sex-modified genetic defects in swine--cryptorchidism.

Review of published data suggests that cryptorchidism in Chester Whites and Yorkshires is caused by completely penetrant, recessive genes at two autosomal loci; in Lacombes, multifactorial modes of inheritance are more plausible. Different genetic systems control presence of the trait vs. number of sides affected; left testes are retained more often in almost all samples. Contrary to previous claims prenatal viability of homozygous males and females is normal. Genes causing cryptorchidism are unlikely to affect many other malformations in either sex, but pleiotropy is suggested to extend to economic traits such as conformation in females.

Animals↗

PubMed1989

The genetics of abnormal abdomen, incomplete abdomen, and bobbed in Drosophila buzzatii.

Five stocks of Drosophila buzzatii with superficially similar abdominal disruptions including partial tergite and sternite loss were isolated by inbreeding. Three of the stocks have indistinguishable phenotypes, the inheritance of which is maternally influenced. This phenotype and its mode of inheritance bear similarities with those of Abnormal abdomen in D. melanogaster. The phenotype in the fourth stock is slightly different and is due to a single autosomal recessive gene, which we denote incomplete abdomen. In the fifth stock the trait is limited to females, and in appearance and mode of inheritance resembles bobbed in D. melanogaster. Furthermore, only in this stock are rDNA deletions evident. The combined frequencies of the three types of abdominal aberration were found to be around 1% in several samples from wild and laboratory populations of D. buzzatii.

Abdomen↗

PubMed1989

Autosomal recessive inheritance of airway hyperreactivity to 5-hydroxytryptamine.

We have previously reported that airway hyperresponsiveness to acetylcholine (ACh) is inherited as an autosomal recessive trait in A/J and C3H/HeJ mice and the progeny of crosses between them (FASEB J. 2: 2605-2608, 1988). In the present report, we have extended these studies by evaluating the biological variability in the airway response to 5-hydroxytryptamine (5-HT) and ACh among multiple genetically standardized inbred strains of mice. The pattern of airway responsiveness to ACh differed significantly from that of 5-HT in nine inbred strains of mice. A/J mice showed nonspecific airway hyperresponsiveness to both 5-HT and ACh. DBA/2J mice were hyperresponsive to 5-HT but not to ACh. An airway phenotype that resembled these inbred strains is termed HYPERREACTIVE. The C3H/HeJ and C57BL/6J inbred strains were minimally reactive to either ACh or 5-HT. Airway phenotypes that resembled these minimally reactive strains are termed HYPOREACTIVE. The frequency of HYPERRACTIVE and HYPOREACTIVE offspring from crosses between A/J and C3H/HeJ mice or DBA/2J and C57BL/6J mice is consistent with a single autosomal recessive gene, primarily determining airway hyperresponsiveness to 5-HT. We report linkage studies which suggest that these genes are not closely linked and that 5-HT and ACh airway hyperresponsiveness is inherited independently. The results of these studies suggest that murine nonspecific airway hyperresponsiveness is determined by multiple genes.

Acetylcholine↗

PubMed2001

Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice.

OBJECTIVE: To localize the chromosomal position of a novel cataract mutation (juvenile recessive cataract; jrc) in mice. METHODS: A mapping population was developed by crossing cataract males (albino MH) to wild-type females (black C57BL/6J). F1 females were backcrossed to albino MH males with cataracts. RESULTS: The results were consistent with a model of a single autosomal recessive gene [153 cataract, 169 wild-type; chi2 = 0.8, 1 degree of freedom (d.f.), p > 0.35]. Linkage with the albino (tyrosinase; Tyr) locus was evident (chi2 = 61.5, 1 d.f., p < 0.0001), implicating chromosome 7 as the location of jrc. Recombination percentages (+/- SE) between jrc and D7Mit340 (1.2 cM location), D7Mit227 (16.0 cM) and D7Mit270 (18.0 cM) were 17.1 +/- 2.1, 3.7 +/- 1.1 and 6.2 +/- 1.3%, respectively. Multi-point mapping determined that the most likely order of these loci is D7Mit340 - jrc - D7Mit227 - D7Mit270 - Tyr. Although animals with the mutant phenotype appeared to have little or no sense of sight, their growth was not different (p >0.20) from that of normal mice. CONCLUSION: The jrc mutation model may be useful in the study of the genetics of cataracts in other animal species, including humans.

Animals↗

PubMed1990

Genetic regulation of the development of glomerular sclerotic lesions in the BUF/Mna rat.

BUF/Mna strain rats spontaneously develop renal glomerular sclerotic lesions (RSL) at a nearly 100% incidence, diagnosed by hyperalbuminuria (greater than 500 mg/dl) and glomerular lesions morphologically resembling one type of human focal glomerular sclerosis (FGS). Genetic segregation of RSL development was studied by crossing the BUF/Mna strain with two other rat strains, WKY/NCrj and ACI/NMs, which were free of RSL. Two autosomal recessive genes in the BUF/Mna rats were found to determine the susceptibility to RSL in both combinations of crosses.

Albuminuria↗

PubMed1975

A raised incidence of HL-A2 plus HL-A9 and other anomalies of the HL-A antigens of patients with leukaemia.

In 54 patients with leukaemia a raised incidence of HL-A9 was noted as well as a markedly increased association between this antigen and HL-A2. This occurred most frequently in patients with chronic myeloid leukemia. As HL-A2 and HL-A9 are both antigens of the first series it has been suggested that all the predisposition to develop leukaemia is controlled by a recessive gene closely linked to the first LH-A locus and in a linkage disequilibrium with HL-A2 and HL-A9. 5 patients also showed definite changes between antigens of the same series, whilst other suffered a partial or total loss in antigenicity. Lymphocytes from 145 controls did not behave in this way, though other patients receiving radiotherapy also 'lost' antigens. So it was postulated that such changes resulted from the treatment of the disease rather than the disease itself.

Gene Frequency↗

PubMed1977

A study of consanguinity between the parents of transsexuals.

During recent years there have been published a number of reports of more than one case of transsexualism or other sexual pathology occurring within the same family. As long as the aetiology of transsexualism remains unknown the authors consider that a possible effect of recessive genes cannot be definitely excluded. To ascertain whether transsexual patients are born of cousin marriages to a greater extent than expected the authors have fully investigated family relationships for 61 known cases of transsexualism. No case of cousin marriage was disclosed.

Consanguinity↗

PubMed1983

Meiosis and early cleavage in Drosophila melanogaster eggs: effects of the claret-non-disjunctional mutation.

The claret-non-disjunctional (cand) mutation is a female-specific mutation in Drosophila melanogaster, which causes a high frequency of mortality (89--90%) in eggs laid by the homozygous females. Among the progeny that survive to the adult stage, greater than 50% are aneuploid and/or mosaic for the X and number 4 chromosomes. The genetic studies of cand indicate that it is homologous to the claret mutation (ca-simulans) in Drosophila simulans. The cytological effect of the cand mutation on meiosis I and the early cleavage divisions has been observed at the light microscope level in stage 14 ovarian and fertilized uterine eggs, respectively. Four classes of metaphase I figures were observed. These include those with: (1) two or more spindles; (2) spindles that were abnormally wide and the bivalents widely separated; (3) unipolar spindles; and (4) apparently normal bipolar spindles. The three abnormal classes of metaphase I figures included 80% of the eggs examined at this stage. Among the cleavage stage eggs examined 69% showed highly abnormal mitotic figures, including multipolar spindles, and the nuclei in these eggs were found in clusters, rather than dispersed throughout the ooplasm. In addition to the cytological abnormalities observed, 17--23% of the eggs produced by the cand females showed morphological abnormalities. These abnormalities included eggs having three of four dorsal filaments, eggs that had a truncated shape, and abnormally small eggs. These abnormalities may not be an aspect of the cand syndrome, but they are due to recessive genes located on the third chromosome. Although the cand and ca-simulans mutations both affect the formation of the spindle apparatus during meiosis and the early cleavage divisions, the effects of these two mutations differ considerably in detail. The effect of the ca-simulans mutation appears to be more severe than the effect of cand. A model to explain the relationship between the effect of the cand mutation on meiosis I and the early cleavage divisions is presented, and evidence to support the model is discussed.

Animals↗

PubMed1983

A hereditary nervous disorder in Fayoumi chickens.

A hereditary nervous disorder in Fayoumi chickens is described. Affected chickens developed seizure symptoms characterized by sudden crouching to the ground with neck rigidly flexed. The duration of the seizure varied from case to case, usually lasting for 15 to 30 s. The seizure was triggered by unexpected loud noise, sudden movement, bright light and other audiovisual stimuli. The main histopathological lesions consisted of degeneration of small arteries, with cellular infiltration in the cerebrum of all chickens examined and demyelination and/or loss of nerve fibres with oedema and Schwann cell proliferation in the cervical spinal nerves of most birds. Genetic analysis revealed that the condition was heritable and apparently controlled by an autosomal recessive gene.

Animals↗

PubMed1985

A new mutant at the Dystrophia muscularis (dy) locus in the SM strain of mice.

Muscular dystrophy was found in the SM strain of mice. This defect was shown to be caused by a single autosomal recessive gene allelic with the genes at the dy locus. The dystrophic SM mice may provide a useful animal model for human muscular dystrophy, because SM strain has been selected for small body size and carries rare alleles at several loci.

Alleles↗

PubMed2004

Aneuploid analyses of three chlorophyll abnormalities in Emmer wheat.

Of the various chlorophyll abnormalities that occur in polyploid wheats, genetic bases of only two types, chlorina and virescence, are known. Here, for the first time, the chromosomal bases of three other chlorophyll abnormalities, striato-virescence, delayed virescence, and albino, which occur in Emmer wheat (2n = 4x = 28, genome constitution AABB) are reported. A set of disomic substitution lines of Langdon durum was used for chromosome identification. All three abnormalities are controlled by two duplicated recessive genes (carrier chromosome in parentheses); striato-virescence by sv1 (3A) and sv2 (2A), delayed virescence by dv1 (2B) and dv2 (supposedly 2A), and albino by abn1 (2A) and abn2 (2B). Genes on the same chromosome are located in different loci and are recombined with each other. The Chinese Spring cultivar of common wheat (2n = 6x = 42, genome constitution AABBDD) carries wild-type homoeoalleles for these abnormalities; Sv3 (2D), Dv3 (2D), and Abn3 (2D).

Aneuploidy↗

PubMed1990

Genetic analysis of variation in the number of primary spermatocytes per cyst in Drosophila virilis.

Two experiments were performed with the aim of clarifying the genetic basis of variation in the number of primary spermatocytes per cyst in the B12 strain of Drosophila virilis and identifying the chromosome responsible for the variation. First, crosses between B12, showing a mean cell number of 11.81, and strain TK with a mean of 7.91, were performed. From the results obtained, it was considered that there were two factors, i.e., a recessive gene and certain modifiers, which shifted the cell number toward a higher value in B12. Second, chromosomal analysis with a marker strain and the B12 strain revealed that the third chromosome of B12 was responsible for the major effect of changing the primary spermatocyte number, although this chromosome did not exert a sufficient effect alone, and furthermore that at least one of the modifiers located on the second chromosome.

Animals↗

PubMed1995

Low level of immunoglobulin G2a subclass correlates with a deficiency in T helper cell function in LEC mutant rats.

Long-Evans Cinnamon (LEC) rats bear a congenital deficiency in CD4+8- thymocytes and consequently a deficiency in helper T cell function. This mutation is caused by a single recessive gene referred to as thid (T helper immunodeficiency). It has been reported that rat immunoglobulin(Ig) G2a subclass is a counterpart of the mouse IgG1. Serum IgG2a levels in LEC rats were ten-fold lower than those of normal rats. To identify a cause of low IgG2a levels in LEC rats, we made backcross rats, (F344 x LEC)F1 x LEC, and examined linkage to the thid mutation. The serum IgG2a levels of rats showing thid/thid phenotype were much lower than those of rats showing +/thid phenotype. This indicates that the thid mutation correlates with low level of IgG2a subclass. Furthermore, LEC rat B cells were shown to secret IgG2a normally when these were stimulated with LPS and IL-4, suggesting that a cause of low level of IgG2a was due to defect of T cell function but not due to B cell disfunction in LEC rats. These results confirm the idea that T-helper (Th) function is necessary for the class switch to IgG2a subclass in rats.

Animals↗

PubMed2004

Fine mapping of the region including hypogonadism (hgn) locus on rat chromosome 10.

The hypogonadic rat (hgn/hgn) shows male sterility, reduced female fertility, and renal hypoplasia, controlled by a single recessive gene located on rat chromosome 10. We developed a fine map around the hgn locus using 565 rat backcross progeny and a Rat/Hamster radiation hybrid panel. The hgn locus was linked to Aldoc (aldolase c) and whn (winged helix of nude), and located in a 0.34-cM region between D10Rat30 and D10Rat68. The distance of the region was approximately 840-kb on rat physical map. Neither loci responsible for male sterility nor renal hypoplasia has been mapped on the homologous regions of mouse chromosome 11 and human chromosome 17. Identification of the gene responsible for the hgn mutation would provide important information on urogenital development.

Animals↗

PubMed2002

Circling mouse, a spontaneous mutant in the inner ear.

A spontaneous mutant was established in the ICR mouse strain. The affected mice became hyperactive at about 7 days of age, and then showed circling behavior. The body weight decreased significantly 2 weeks after birth, and developmental defects were revealed in the middle ear, cochlea, cochlear nerve, and semicircular canal areas. The mutation was inherited by an autosomal single recessive gene and is referred to as cir.

Animals↗

PubMed2004

Fine mapping of a region of rat chromosome 12 close to the aspermia (as) locus and comparison with the human orthologous regions.

The aspermia mutation of the rat exhibits male sterility caused by arrest of spermatogenesis, which is controlled by an autosomal single recessive gene (as). The as locus has been mapped on rat chromosome 12. We recently identified a causative mutation for the aspermia phenotype of the as homozygous rats in the gene encoding Fkbp6, a member of the immunophilins FK506 binding proteins. In this paper, we report the fine mapping of the as locus by linkage analysis combined with comparative mapping using rat, mouse, and human genomic sequences and expression analysis of genes located in the as region. We constructed a fine linkage map of the region of rat chromosome 12 close to the as locus by using 13 microsatellite markers and localized the as locus to a 1.0-cM interval. Comparison of the linkage map with physical maps of rat, mouse, and human refined the as critical region in a 2.2-Mb segment of the rat physical map between the D12Nas3 and D12Nas8 genes, which includes the Fkbp6 gene. A centromeric part of this segment corresponds to the region commonly deleted in Williams syndrome, a human complex developmental disorder, on human chromosome 7q11.23. The expression analysis of 23 genes located on the 2.2-Mb segments in various mouse tissues identified genes exclusively or strongly expressed in the testis.

Animals↗

PubMed2006

A novel mutant mouse, joggle, with inherited ataxia.

While establishing a new mouse strain, we discovered a novel mutant mouse that exhibited ataxia. Mating experiments showed that the mutant phenotype was due to a single autosomal recessive gene, which we have termed joggle (gene symbol: jog). The ataxia becomes apparent around postnatal day 12, when the mice first attempt to walk, and worsens thereafter. The life span of the mutant mouse is comparable to that of the wild-type mouse. After 21 days of age, the cerebellum weights of the jog/jog mice are significantly lower than those of the wild-type mice. These observations indicate that jog/jog mutant mice could be useful models for biomedical research.

Animals↗