Neural control of breathing: insights from genetic mouse models

Gaultier, Claude; Gallego, Jorge

doi:10.1152/japplphysiol.01266.2007

Cited by 38 publications

(16 citation statements)

References 91 publications

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“…Most notably, this region contains orthologs of the imprinted gene cluster involved in the neurological disorders Prader-Willi Syndrome and Angelman Syndrome; Prader-Willi Syndrome is caused by the lack of a functional paternal copy (maternally imprinted), while Angelman Syndrome is caused by a lack of maternal copy [27]. Investigation into the genes underlying Prader-Willi Syndrome reveals that Necdin mutants display respiratory instability and die within the first week after birth [28]. Forty-five percent of mice with maternally transmitted Angelman Syndrome die seven days after birth or display a reduction in post-natal growth and viability [29,30].…”

Section: Discussionmentioning

confidence: 99%

Genetic mapping and developmental timing of transmission ratio distortion in a mouse interspecific backcross

et al. 2010

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BackgroundTransmission ratio distortion (TRD), defined as statistically significant deviation from expected 1:1 Mendelian ratios of allele inheritance, results in a reduction of the expected progeny of a given genotype. Since TRD is a common occurrence within interspecific crosses, a mouse interspecific backcross was used to genetically map regions showing TRD, and a developmental analysis was performed to identify the timing of allele loss.ResultsThree independent events of statistically significant deviation from the expected 50:50 Mendelian inheritance ratios were observed in an interspecific backcross between the Mus musculus A/J and the Mus spretus SPRET/EiJ inbred strains. At weaning M. musculus alleles are preferentially inherited on Chromosome (Chr) 7, while M. spretus alleles are preferentially inherited on Chrs 10 and 11. Furthermore, alleles on Chr 3 modify the TRD on Chr 11. All TRD loci detected at weaning were present in Mendelian ratios at mid-gestation and at birth.ConclusionsGiven that Mendelian ratios of inheritance are observed for Chr 7, 10 and 11 during development and at birth, the underlying causes for the interspecific TRD events are the differential post-natal survival of pups with specific genotypes. These results are consistent with the TRD mechanism being deviation from Mendelian inheritance rather than meiotic drive or segregation distortion.

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Section: Discussionmentioning

confidence: 99%

Genetic mapping and developmental timing of transmission ratio distortion in a mouse interspecific backcross

et al. 2010

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“…A greater reduction of ventilatory responses to progressive eucapnic hypoxia during wakefulness is observed in the members of OSAS families as compared to members of control families. Moreover, impairment in load compensation was suggested by the finding of a significantly greater increase in ventilatory impedance with inspiratory resistive loading in OSAS family members versus control subjects [62]. These data point out that the familial aggregation of OSAS may be based on inherited abnormalities in ventilatory control, probably related to chemoregulation and/or load compensation.…”

Section: Main Risk Factors: the Genetic Basismentioning

confidence: 97%

Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

Casale¹,

Pappacena²,

Rinaldi

et al. 2009

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Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity.

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“…Studies of breathing dysfunction and the underlying synaptic pathomechanisms in the rCPG can be investigated in a number of genetically engineered animal models (132). Here, we summarize the role of the KF-area and associated pontomedullary synaptic interactions in transgenic mouse strains designed to mimic human neurological diseases.…”

Section: The Parabrachial Complex and Kölliker-fuse Nuclei Of The Dormentioning

confidence: 99%

Pontine Mechanisms of Respiratory Control

Dutschmann

Dick

2012

Comprehensive Physiology

222

201

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Pontine respiratory nuclei provide synaptic input to medullary rhythmogenic circuits to shape and adapt the breathing pattern. An understanding of this statement depends on appreciating breathing as a behavior, rather than a stereotypic rhythm. In this review, we focus on the pontine-mediated inspiratory off-switch (IOS) associated with postinspiratory glottal constriction. Further, IOS is examined in the context of pontine regulation of glottal resistance in response to multimodal sensory inputs and higher commands, which in turn rules timing, duration, and patterning of respiratory airflow. In addition, network plasticity in respiratory control emerges during the development of the pons. Synaptic plasticity is required for dynamic and efficient modulation of the expiratory breathing pattern to cope with rapid changes from eupneic to adaptive breathing linked to exploratory (foraging and sniffing) and expulsive (vocalizing, coughing, sneezing, and retching) behaviors, as well as conveyance of basic emotions. The speed and complexity of changes in the breathing pattern of behaving animals implies that “learning to breathe” is necessary to adjust to changing internal and external states to maintain homeostasis and survival.

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Neural control of breathing: insights from genetic mouse models

Abstract: Gaultier C, Gallego J. Neural control of breathing: insights from genetic mouse models.

Cited by 38 publications

References 91 publications

Genetic mapping and developmental timing of transmission ratio distortion in a mouse interspecific backcross

Genetic mapping and developmental timing of transmission ratio distortion in a mouse interspecific backcross

Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

Pontine Mechanisms of Respiratory Control

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