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.

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A new allele of the lpr locus, lprcg, that complements the gld gene in induction of lymphadenopathy in the mouse.

Journal of Experimental Medicine ◽

10.1084/jem.171.2.519 ◽

1990 ◽

Vol 171 (2) ◽

pp. 519-531 ◽

Cited By ~ 87

Author(s):

A Matsuzawa ◽

T Moriyama ◽

T Kaneko ◽

M Tanaka ◽

M Kimura ◽

...

Keyword(s):

Recessive Gene ◽

Mutant Gene ◽

Inbred Strains ◽

Lymphoid Hyperplasia ◽

Lymphoid Cells ◽

Autoantibody Production ◽

Genetic Studies ◽

Inbred Strains Of Mice ◽

Backcross Populations ◽

Generalized Lymphadenopathy

Several mice with generalized lymphadenopathy were found in the CBA/KlJms (CBA) colony maintained at our institute. A new mutant strain of mice that develop massive lymphoid hyperplasia at 100% incidence within 5 mo after birth was established by crossing these diseased mice. Genetic studies on lymphadenopathy were conducted in F1, F2, and backcross populations from crosses between mutant CBA (CBA-m) and various inbred strains of mice. The results supported the control of lymphadenopathy by a single autosomal recessive gene. Since C3H/He-gld/gld (C3H-gld), MRL/MpJ-lpr/lpr (MRL-lpr), and C3H/HeJ-lpr/lpr (C3H-lpr) mice develop the same type of lymphoid hyperplasia, allelism of the mutant gene with gld or lpr was tested by investigating lymphadenopathy in F1 and backcross populations from crosses between CBA-m and C3H-gld, MRL-lpr, or C3H-lpr mice. The gene was confirmed to be allelic with lpr but not with gld. Interestingly, however, the mutant gene interacted with gld to induce less severe lymphadenopathy. Thus, the mutant gene was named lprcg, an lpr gene complementing gld in induction of lymphoproliferation. The genetic conclusion was supported by the same profile of surface markers of lymphoid cells with gld/gld, lpr/lpr, lprcg/lprcg, lprcg/lpr, and +/gld +/lprcg genotypes, as well as by massive lymph node hyperplasia and high titers of autoantibodies in the first four genotypes, but slight hyperplasia and insignificant autoantibody production in the last. The discovery of lprcg provided strong genetic evidence for the parallels between anomalous phenotypes of gld and lpr, and CBA/KlJms-lprcg/lprcg mice will contribute to elucidation of the mechanism of induction of the same abnormal differentiation and functions of lymphocytes by gld and lpr.

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Allergen-induced airway disease is mouse strain dependent

AJP Lung Cellular and Molecular Physiology ◽

10.1152/ajplung.00390.2002 ◽

2003 ◽

Vol 285 (1) ◽

pp. L32-L42 ◽

Cited By ~ 123

Author(s):

Gregory S. Whitehead ◽

Julia K. L. Walker ◽

Katherine G. Berman ◽

W. Michael Foster ◽

David A. Schwartz

Keyword(s):

Inbred Mouse ◽

Inbred Strains ◽

Airway Disease ◽

Lavage Fluid ◽

Lung Lavage ◽

Airway Hyperreactivity ◽

Mouse Strains ◽

Airway Eosinophilia ◽

Biological Responses ◽

Inbred Strains Of Mice

We investigated the development of airway hyperreactivity (AHR) and inflammation in the lungs of nine genetically diverse inbred strains of mice [129/SvIm, A/J, BALB/cJ, BTBR+(T)/tf/tf, CAST/Ei, C3H/HeJ, C57BL/6J, DBA/2J, and FVB/NJ] after sensitization and challenge with ovalbumin (OVA). At 24, 48, and 72 h post-OVA exposure, the severity of AHR and eosinophilic inflammation of the mouse strains ranged from relatively unresponsive to responsive. The severity of the airway eosinophilia of some strains did not clearly correlate with the development of AHR. The temporal presence of T helper type 2 cytokines in lung lavage fluid also varied markedly among the strains. The levels of IL-4 and IL-13 were generally increased in the strains with the highest airway eosinophilia at 24 and 72 h postexposure, respectively; the levels of IL-5 were significantly increased in most of the strains with airway inflammation over the 72-h time period. The differences of physiological and biological responses among the inbred mouse strains after OVA sensitization and challenge support the hypothesis that genetic factors contribute, in part, to the development of allergen-induced airway disease.

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Genetic control of susceptibility to ozone-induced changes in mouse tracheal electrophysiology

AJP Lung Cellular and Molecular Physiology ◽

10.1152/ajplung.1995.269.1.l6 ◽

1995 ◽

Vol 269 (1) ◽

pp. L6-L10

Author(s):

M. Takahashi ◽

S. R. Kleeberger ◽

T. L. Croxton

Keyword(s):

Second Generation ◽

Genetic Factors ◽

Inbred Mouse ◽

Autosomal Recessive Inheritance ◽

Inbred Strains ◽

Mouse Strains ◽

Specific Response ◽

Resistant Parent ◽

Filial Generation ◽

Inbred Strains Of Mice

Genetic factors influence the responses of humans and rodents to ozone (O3) inhalation. We previously demonstrated differential O3-induced decreases of tracheal potential (VT) in C57BL/6J (B6) and C3H/HeJ (C3) strain mice. To characterize the genetic basis of this strain-specific response, we measured VT in progeny of B6 and C3 strain mice and in six additional inbred strains of mice 6 h after O3 exposures (2 ppm x 3 h). First filial generation (F1) mice and second generation backcrosses with the resistant parent were uniformly resistant. The distribution of VT in second generation backcrosses with the susceptible parent resembled that of a population composed of resistant and susceptible mice in a 1:1 ratio. These data suggested simple autosomal recessive inheritance of susceptibility. However, overlapping distributions prevented statistical confirmation of that hypothesis. Strain screening revealed a susceptible phenotype in 129/J, A/J, B6, C3HeB/FeJ, and SJL/J and a resistant phenotype in AKR/J, C3, and CBA/J inbred mouse strains. Because this pattern of susceptibility to changes in VT differs from that of susceptibility to lung inflammation, the genetic factors that determine these two responses to acute O3 are not identical.

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Hypoplasia of ribs associated with cleft palate, cleft lip, and unilateral renal agenesis in a neonate dog of undefined breed

Semina Ciências Agrárias ◽

10.5433/1679-0359.2019v40n1p497 ◽

2019 ◽

Vol 40 (1) ◽

pp. 497

Author(s):

Keylla Helena Nobre Pacifico Pereira ◽

Caio Henrique Paganini Burini ◽

Elton Luís Ritir Oliveira ◽

Lucas Emanuel Ferreira Canuto ◽

Luiz Eduardo Cruz Dos Santos Correia ◽

...

Keyword(s):

Cleft Palate ◽

Autosomal Recessive ◽

Cleft Lip ◽

Renal Agenesis ◽

Present Report ◽

Autosomal Recessive Inheritance ◽

Normal Function ◽

Congenital Defects ◽

Unilateral Renal Agenesis ◽

First Case

Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human newborns. It is a rare and lethal malformation of autosomal recessive inheritance that prevents thoracic expansion and reduces pulmonary compliance, causing respiratory failure. A pregnant bitch of undefined breed was submitted to caesarean section. At birth, a neonate exhibited respiratory distress, and the palpation of the thorax indicated absence of ribs. In addition, the newborn had cleft palate and cleft lip, which led to perform the euthanasia of the animal. Post-mortem examination indicated hypoplasia of ribs and unilateral renal agenesis. As in the canine neonate, hypoplasia of ribs in human newborns is also associated with other malformations, such as cleft lip, cleft palate, and urogenital defects. The present report describes the first case of hypoplasia of ribs associated with other malformations in a canine neonate, the cause being possibly related to a genetic hereditary factor.

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Expression of airway hyperreactivity to acetylcholine as a simple autosomal recessive trait in mice

The FASEB Journal ◽

10.1096/fasebj.2.10.3384240 ◽

1988 ◽

Vol 2 (10) ◽

pp. 2605-2608 ◽

Cited By ~ 129

Author(s):

Roy C. Levitt ◽

Wayne Mitzner

Keyword(s):

Autosomal Recessive ◽

Airway Hyperreactivity ◽

Recessive Trait ◽

Autosomal Recessive Trait

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Expression of leukemogenic recombinant viruses associated with a recessive gene in HRS/J mice.

Journal of Experimental Medicine ◽

10.1084/jem.152.2.249 ◽

1980 ◽

Vol 152 (2) ◽

pp. 249-264 ◽

Cited By ~ 142

Author(s):

N Green ◽

H Hiai ◽

J H Elder ◽

R S Schwartz ◽

R H Khiroya ◽

...

Keyword(s):

Host Range ◽

Autosomal Recessive ◽

Present Report ◽

Inbred Mice ◽

Recessive Gene ◽

Recombinant Viruses ◽

Autosomal Recessive Gene ◽

Ecotropic Virus ◽

Peptide Maps

HRS/J inbred mice carry a mutant autosomal recessive gene (hr), which in homozygotes coincides with susceptibility to spontaneous thymic leukemia. Unlike their heterozygote (hr/+) littermates, hr/hr homozygotes express high levels of xenotropic virus during the preleukemic period, and viruses with a broadened host range (termed polytropic viruses) can be isolated from their preleukemic and leukemic tissues. Because hr/hr and hr/+ mice are otherwise genetically identical, the virological differences between them support the role of polytropic viruses in the generation of thymic leukemia. In the present report we show that the HRS/J polytropic viruses are env gene recombinants with unique oligonucleotide and peptide maps. These polytropic viruses appear to arise by recombination between ecotropic virus and an unidentified genome related, but not identical to, the endogenous xenotropic viruses. Moreover, polytropic viruses not only accelerate leukemogenesis in HRS/J mice, but also induce thymic leukemia in the low leukemia strain CBA/J. By contrast, cloned ecotropic and xenotropic viruses have no leukemogenic action.

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Peculiarities of Inheriting Coat Colour Shades in the Breed “Golden Retriever”

International Journal of Biology and Biomedical Engineering ◽

10.46300/91011.2022.16.15 ◽

2022 ◽

Vol 16 ◽

pp. 120-125

Author(s):

Alexander Alexandrovich Ermakov

Keyword(s):

Autosomal Recessive ◽

Recessive Gene ◽

Autosomal Recessive Inheritance ◽

Pure Line ◽

Coat Colour ◽

Special Focus ◽

Golden Retriever ◽

Kennel Club ◽

Leading Role ◽

Broad Variety

The Article describes the peculiarities of colour shades in the Golden Retriever breed. The separate attention was given to nowadays existence of different standards of coat colour in this breed across the world, and these standards admit a broad variety of different shades in golden colour. Herewith it has been established that the white pigmentation colour of golden retrievers is unallowable in any of “Kennel Club” standards valid for today. The special focus was put to the genotype of breed, which presupposes the existence of double recessive gene (e/e) that predetermines creamy shade of coat colour. It was discovered that exactly the gene MC1R, its autosomal-recessive inheritance, plays the leading role in defining the coat colour of dogs and in the exterior of the breed. It was assumed how and why this genotype is widespread in population, at which extent sub-populations are distinguished (American and English-European ones), and also there was the option offered related to breeding the pure line on the basis of knowledge about karyotype of dogs, that were obtained in a course of predicative screening of E-locus.

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