International Mammalian Genome Society

The 14th International Mouse Genome Conference (2000)

I15. Ribosomal Protein L38 is Essential for Early Embryogenesis and Skeletal Patterning of Mice

Kunihiko Shimizu1,2, Junko Ishijima1, Yoshiaki Kikkawa3, Hiromichi Yonekawa3, Kiyoshi Tsukahara4, Tsutomu Hirasawa4, Susumu Makino4, Tsuyoshi Koide1, Shigeharu Wakana5, Rudi Balling6, and Toshihiko Shiroishi1,5
1National Institute of Genetics, Mishima, Japan,
Nihon University School of Dentistry at Matsudo, Chiba, Japan,
The Tokyo Metropolitan Institute for Medical Science, Tokyo, Japan,
Shionogi Institute for Medical Science, Shiga, Japan,
RIKEN Genomic Sciences Center, Yokohama, Japan,
GSF Mammalian Genetic Institute, Germany.

Three mouse skeletal mutations, Tail-short (Ts), Tail-short shionogi (Tss) and Rabo torcido (Rbt), have been mapped to the same distal region of the chromosome 11. All three mutations exhibit very similar phenotypes: homozygotes are morphologically abnormal at the morula stage and are lethal around the implantation stage, and the heterozygotes show a shortened kinky tail, neural tube defect and numerous skeletal abnormalities including a homeotic transformation of the axial skeletons. The causative genes of these mutations have been thought to play indispensable roles in early embryogenesis and anteroposterior patterning during skeletal development. Using positional cloning approach, we found that a gene encoding RpL38 protein, a small 8.1kD component of the 60S large subunit of ribosome, is mutated in all three Ts, Tss, and Rbt mutations. Furthermore, we demonstrated that transgene of the wild-type Rpl38 rescued all the phenotypes of Ts mutation. All data present direct evidence that defect of a small ribosomal protein causes embryonic lethality and abnormal morphogenesis including homeotic transformation in mouse.

Abstracts * Officers * Bylaws * Application Form * Meeting Calendar * Contact Information * Home * Resources * News and Views * Membership

Base url
Last modified: Saturday, November 3, 2012