Lack of X inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis

American Journal of Human Genetics

Volumn 58, Issue 1, 1996, Pages 161-170

  Migeon, Barbara R ^a,d   Jeppesen, Peter ^b   Torchia, Beth S ^a   Fu, Sidong ^a   Dunn, Melanie A ^a   Axelman, Joyce ^a   Schmeckpeper, Barbara J ^a   Fantes, Judy ^b   Zori, Robert T ^c   Driscoll, Daniel J ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF FLORIDA   (United States)

^d JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CHROMOSOME DELETION X; CHROMOSOME MOSAICISM; DISOMY; EMBRYO DEVELOPMENT; FEMALE; GENE EXPRESSION; HUMAN; HUMAN CELL; HYBRID CELL; KARYOTYPE; MENTAL DEFICIENCY; MOUSE; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; RING CHROMOSOME; TURNER SYNDROME; X CHROMOSOME INACTIVATION;

ANIMALIA;

EID: 0029655347     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Barker DF, Fain PR (1993) Definition and mapping of STS's at STR and RFLP loci in Xp11-Xq22. Genomics 18:712-716
2. Boggs BA, Chinault AC (1994) Analysis of replication timing properties of human X-chromosomal loci by fluorescence in situ hybridization. Proc Natl Acad Sci USA 91:6083-6087
3. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi RT, Willard HF (1991) A gene from the region of the human X inactivation center expressed exclusively from the inactive X chromosome. Nature 349:38-44
4. Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y, Lawrence J, Willard HF (1992) The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 71:527-542
5. Brown CJ, Willard HF (1989) Non-inactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet 45:592-598