Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9     

Liquori CL  Ricker K  Moseley ML  Jacobsen JF  Kress W  Naylor SL  Day JW  Ranum LP 《Science (New York, N.Y.)》2001,293(5531):864-867

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.  相似文献   

THE NATIONAL ACADEMY OF SCIENCES     

Day AL 《Science (New York, N.Y.)》1914,39(1007):566-569

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Sustainability. Resolving mismatches in U.S. ocean governance     

Crowder LB  Osherenko G  Young OR  Airamé S  Norse EA  Baron N  Day JC  Douvere F  Ehler CN  Halpern BS  Langdon SJ  McLeod KL  Ogden JC  Peach RE  Rosenberg AA  Wilson JA 《Science (New York, N.Y.)》2006,313(5787):617-618

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Endocrine changes during restoration of estrous cycles following induction of anestrus by restricted nutrient intake in beef heifers   总被引：1，自引：0，他引：1  

K Imakawa  M L Day  M Garcia-Winder  D D Zalesky  R J Kittok  B D Schanbacher  J E Kinder 《Journal of animal science》1986,63(2):565-571

The working hypotheses in this experiment were: that ovarian estradiol would inhibit luteinizing hormone (LH) secretion in heifers that were anestrus as a result of restricted dietary energy intake and the responsiveness of LH secretion to estradiol negative feedback would decrease during the period when restoration of estrous cycles occurred following feeding of diets adequate in energy. Fifteen heifers weighing 341 +/- 12 (mean +/- SE) kg were fed a diet containing 50% of the energy required for maintenance until 40 to 50 d following cessation of estrous cycles. Heifers were assigned to intact control (C, n = 5), ovariectomized (OVX, n = 5) or ovariectomized-estradiol-17 beta-implanted (OVX + E2, n = 5) treatments. Heifers were subsequently provided a high-energy (HE) diet until termination of the study. Progesterone concentrations indicating cessation of corpus luteum function were detected after heifers had lost 71 +/- 8 kg body weight over 186 +/- 28 d. Control heifers re-initiated estrous cycles as indicated by increased progesterone concentrations in serum at 49 +/- 9 d after initiation of feeding the HE diet (360 +/- 18 kg body weight). Initiation of pulsatile LH secretion was observed in heifers by d 12 following OVX. Estradiol suppressed LH secretion in OVX + E2 heifers during the period of nutritional anestrus in C heifers. Suppressive effects of E2 on LH secretion continued in OVX heifers after C heifers had initiated corpus luteum function. Therefore, the working hypothesis that LH secretion is inhibited by E2 in the nutritionally anestrous heifer is accepted but responsiveness to estradiol does not subside with re-initiation of estrous cycles, thus this working hypothesis is rejected.  相似文献