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Rnx deficiency results in congenital central hypoventilation.

Nature genetics | Mar 7, 2000

http://www.ncbi.nlm.nih.gov/pubmed/10700185

The genes Tlx1 (Hox11), Enx (Hox11L2, Tlx-2) and Rnx (Hox11L2, Tlx-3) constitute a family of orphan homeobox genes. In situ hybridization has revealed considerable overlap in their expression within the nervous system, but Rnx is singularly expressed in the developing dorsal and ventral region of the medulla oblongata. Tlx1-deficient and Enx-deficient mice display phenotypes in tissues where the mutated gene is singularly expressed, resulting in asplenogenesis and hyperganglionic megacolon, respectively. To determine the developmental role of Rnx, we disrupted the locus in mouse embryonic stem (ES) cells. Rnx deficient mice developed to term, but all died within 24 hours after birth from a central respiratory failure. The electromyographic activity of intercostal muscles coupled with the C4 ventral root activity assessed in a medulla-spinal cord preparation revealed a high respiratory rate with short inspiratory duration and frequent apnea. Furthermore, a coordinate pattern existed between the abnormal activity of inspiratory neurons in the ventrolateral medulla and C4 motorneuron output, indicating a central respiratory defect in Rnx mice. Thus, Rnx is critical for the development of the ventral medullary respiratory centre and its deficiency results in a syndrome resembling congenital central hypoventilation.

Pubmed ID: 10700185 RIS Download

Mesh terms: Abnormalities, Multiple | Animals | Apnea | Cyanosis | Electromyography | Embryonic and Fetal Development | Genes, Homeobox | Genes, Lethal | Genotype | Gestational Age | Homeodomain Proteins | Hypoventilation | In Situ Hybridization | Intercostal Muscles | Medulla Oblongata | Mice | Mice, Knockout | Motor Neurons | Neurons | Oncogene Proteins | Polycomb-Group Proteins | Repressor Proteins | Respiratory Center | Spinal Cord

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