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Identification of novel mouse genes conferring posthypoxic pauses
Gillombardo, C. Barton1,2; Yamauchi, Motoo3; Adams, Mark D.4; Dostal, Jesse1,2; Chai, Sam1,2; Moore, Michael W.1,2; Donovan, Lucas M.1,2; Han, Fang5; Strohl, Kingman P.1,2
关键词respiratory control apnea genetics quantitative trait linkage hypoxia
刊名JOURNAL OF APPLIED PHYSIOLOGY
2012-07-01
DOI10.1152/japplphysiol.01394.2011
113期:1页:167-174
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Physiology ; Sport Sciences
研究领域[WOS]Physiology ; Sport Sciences
关键词[WOS]OBSTRUCTIVE SLEEP-APNEA ; APOLIPOPROTEIN A-II ; VENTILATORY BEHAVIOR ; C57BL/6J MOUSE ; EXPRESSION ; STRAINS ; A/J ; AMYLOIDOSIS ; PROTEIN ; TRAITS
英文摘要

Gillombardo CB, Yamauchi M, Adams MD, Dostal J, Chai S, Moore MW, Donovan LM, Han F, Strohl KP. Identification of novel mouse genes conferring posthypoxic pauses. J Appl Physiol 113: 167-174, 2012. First published April 26, 2012; doi:10.1152/japplphysiol.01394.2011.-Although central to the susceptibility of adult diseases characterized by abnormal rhythmogenesis, characterizing the genes involved is a challenge. We took advantage of the C57BL/6J (B6) trait of hypoxia-induced periodic breathing and its absence in the C57BL/6J-Chr 1A/J/NaJ chromosome substitution strain to test the feasibility of gene discovery for this abnormality. Beginning with a genetic and phenotypic analysis of an intercross study between these strains, we discovered three quantitative trait loci (QTLs) on mouse chromosome 1, with phenotypic effects. Fine-mapping reduced the genomic intervals and gene content, and the introgression of one QTL region back onto the C57BL/6J-Chr 1A/J/NaJ restored the trait. mRNA expression of non-synonymous genes in the introgressed region in the medulla and pons found evidence for differential expression of three genes, the highest of which was apolipoprotein A2, a lipase regulator; the apo a2 peptide fragment (THEQLTPLVR), highly expressed in the liver, was expressed in low amounts in the medulla but did not correlate with trait expression. This work directly demonstrates the impact of elements on mouse chromosome 1 in respiratory rhythmogenesis.

语种英语
WOS记录号WOS:000306187200021
项目编号NS-052452
资助机构VA Research Service ; National Institute of Neurological Disorders and Stroke ; Fuji Respironics ; National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH) ; NIH roadmap for Medical Research
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60513
专题北京大学第二临床医学院
作者单位1.Nara Med Univ, Dept Resp Med, Nara, Japan
2.Beijing Med Univ, Peoples Hosp, Beijing 100083, Peoples R China
3.Univ Hosp Cleveland, Case Med Ctr, Div Pulm Crit Care & Sleep Med, Cleveland, OH 44106 USA
4.Case Western Reserve Univ, Louis Stokes Cleveland DVA Med Ctr, Cleveland, OH 44106 USA
5.Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA
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Gillombardo, C. Barton,Yamauchi, Motoo,Adams, Mark D.,et al. Identification of novel mouse genes conferring posthypoxic pauses[J]. JOURNAL OF APPLIED PHYSIOLOGY,2012,113(1):167-174.
APA Gillombardo, C. Barton.,Yamauchi, Motoo.,Adams, Mark D..,Dostal, Jesse.,Chai, Sam.,...&Strohl, Kingman P..(2012).Identification of novel mouse genes conferring posthypoxic pauses.JOURNAL OF APPLIED PHYSIOLOGY,113(1),167-174.
MLA Gillombardo, C. Barton,et al."Identification of novel mouse genes conferring posthypoxic pauses".JOURNAL OF APPLIED PHYSIOLOGY 113.1(2012):167-174.
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