caa a22 4500 397573448 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.645 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.645 Crigler-Najjar Syndrome Type II is Inherited Both as a Dominant and as a Recessive Trait [Elektronische Daten] [Osamu Koiwai, Sachiko Aono, Yukihiko Adachi, Toshinori Kamisako, Yoshihiro Yasui, Miwako Nishizawa, Hiroshi Sato] Crigler-Najjar syndrome type II (CN-II) is caused by a severely reduced hepatic activity of bilirubin UDP-glucuronosyltransferase (UGT). Recently, by the analysis of the genetic background of CN-II patients, it has been clarified that the patients carry homozygous missense mutations or nonsense plus missense mutations on the gene for UGT, and CN-II was inherited as an autosomal recessive trait. We encountered a new case which had a nonsense mutation caused by a single nucleotide substitution on one allele. This indicates that CN-II is also inherited as a dominant trait as well as a recessive trait. Expression study in vitro strongly suggests that the disease in this case is caused by a dominant negative mutation by forming a heterologous subunit structure. © 1996 Oxford University Press Koiwai Osamu Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya 464, Japan aut Aono Sachiko Department of Perinatology, Institute for Developmental Research, Aichi Prefecture Colony, Kasugai, Aichi 480-03, Japan aut Adachi Yukihiko Second Department of Internal Medicine, Kinki University School of Medicine, Osaka 589, Japan aut Kamisako Toshinori Second Department of Internal Medicine, Kinki University School of Medicine, Osaka 589, Japan aut Yasui Yoshihiro Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya 464, Japan aut Nishizawa Miwako Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya 464, Japan aut Sato Hiroshi Department of Biology, Shiga University of Medical Science, Shiga 520-21, Japan aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 645-647 0964-6906 5:5<645 1996 5 hmg https://doi.org/10.1093/hmg/5.5.645 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.645 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Koiwai Osamu Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya 464, Japan aut NATIONALLICENCE 700 1- Aono Sachiko Department of Perinatology, Institute for Developmental Research, Aichi Prefecture Colony, Kasugai, Aichi 480-03, Japan aut NATIONALLICENCE 700 1- Adachi Yukihiko Second Department of Internal Medicine, Kinki University School of Medicine, Osaka 589, Japan aut NATIONALLICENCE 700 1- Kamisako Toshinori Second Department of Internal Medicine, Kinki University School of Medicine, Osaka 589, Japan aut NATIONALLICENCE 700 1- Yasui Yoshihiro Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya 464, Japan aut NATIONALLICENCE 700 1- Nishizawa Miwako Laboratories of Biochemistry, Aichi Cancer Center Research Institute, Chikusa-ku, Nagoya 464, Japan aut NATIONALLICENCE 700 1- Sato Hiroshi Department of Biology, Shiga University of Medical Science, Shiga 520-21, Japan aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 645-647 0964-6906 5:5<645 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford