PMID- 10655551 OWN - NLM STAT- MEDLINE DCOM- 20000504 LR - 20190513 IS - 0964-6906 (Print) IS - 0964-6906 (Linking) VI - 9 IP - 3 DP - 2000 Feb 12 TI - Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. PG - 413-9 AB - HIC1 is a candidate tumor suppressor gene which is frequently hypermethylated in human tumors, and its location within the Miller-Dieker syndrome's critical deletion region at chromosome 17p13.3 makes it a candidate gene for involvement in this gene deletion syndrome. To study the function of murine Hic1 in development, we have created Hic1 -deficient mice. These animals die perinatally and exhibit varying combinations of gross developmental defects throughout the second half of development, including acrania, exencephaly, cleft palate, limb abnormalities and omphalocele. These findings demonstrate a role for Hic1 in the development of structures affected in the Miller-Dieker syndrome, and provide functional evidence to strengthen its candidacy as a gene involved in this disorder. FAU - Carter, M G AU - Carter MG AD - Graduate Program in Human Genetics and Molecular Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. FAU - Johns, M A AU - Johns MA FAU - Zeng, X AU - Zeng X FAU - Zhou, L AU - Zhou L FAU - Zink, M C AU - Zink MC FAU - Mankowski, J L AU - Mankowski JL FAU - Donovan, D M AU - Donovan DM FAU - Baylin, S B AU - Baylin SB LA - eng GR - CA43318/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, U.S. Gov't, P.H.S. PL - England TA - Hum Mol Genet JT - Human molecular genetics JID - 9208958 RN - 0 (Hic1 protein, mouse) RN - 0 (Kruppel-Like Transcription Factors) RN - 0 (Transcription Factors) SB - IM MH - Abnormalities, Multiple/genetics/pathology MH - Animals MH - Blotting, Southern MH - Embryo, Mammalian/abnormalities MH - *Genes, Tumor Suppressor MH - Humans MH - Kruppel-Like Transcription Factors MH - Mice MH - Reverse Transcriptase Polymerase Chain Reaction MH - Syndrome MH - Transcription Factors/*genetics/metabolism EDAT- 2000/02/03 09:00 MHDA- 2000/05/08 09:00 CRDT- 2000/02/03 09:00 PHST- 2000/02/03 09:00 [pubmed] PHST- 2000/05/08 09:00 [medline] PHST- 2000/02/03 09:00 [entrez] AID - ddd047 [pii] AID - 10.1093/hmg/9.3.413 [doi] PST - ppublish SO - Hum Mol Genet. 2000 Feb 12;9(3):413-9. doi: 10.1093/hmg/9.3.413.