TY - JOUR
T1 - Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome
AU - Yamagishi, Hiroyuki
AU - Srivastava, Deepak
N1 - Funding Information:
The authors thank S. Johnson and C. Yamagishi for assistance with graphics, and V. Garg for critical reading of the manuscript. H.Y. was supported by the American Heart Association (Texas affiliate), the Pharmacia-Upjohn Fund for Growth and Development Research, and the Japanese Ministry of Education and Science. D.S. was supported by grants from the NHLBI/NIH and the March of Dimes Birth Defects Foundation.
PY - 2003/9/1
Y1 - 2003/9/1
N2 - Birth defects occur in nearly 5% of all live births and are the major cause of infant mortality and morbidity. Despite the recent progress in molecular and developmental biology, the underlying genetic etiology of most congenital anomalies remains unknown. Heterozygous deletion of the 22q11.2 locus results in the most common human genetic deletion syndrome, known as DiGeorge syndrome, and has served as an entry to understanding the basis for numerous congenital heart and craniofacial anomalies, among many other defects. Extensive human genetic analyses, mouse modeling and studies of developmental molecular cascades involved in 22q11 deletion syndrome are revealing complex networks of signaling and transcriptional events that are essential for normal embryonic development. Armed with this knowledge, we can now begin to consider the multiple genetic 'hits' that might contribute to developmental anomalies, some of which could provide targets for in utero prevention of birth defects.
AB - Birth defects occur in nearly 5% of all live births and are the major cause of infant mortality and morbidity. Despite the recent progress in molecular and developmental biology, the underlying genetic etiology of most congenital anomalies remains unknown. Heterozygous deletion of the 22q11.2 locus results in the most common human genetic deletion syndrome, known as DiGeorge syndrome, and has served as an entry to understanding the basis for numerous congenital heart and craniofacial anomalies, among many other defects. Extensive human genetic analyses, mouse modeling and studies of developmental molecular cascades involved in 22q11 deletion syndrome are revealing complex networks of signaling and transcriptional events that are essential for normal embryonic development. Armed with this knowledge, we can now begin to consider the multiple genetic 'hits' that might contribute to developmental anomalies, some of which could provide targets for in utero prevention of birth defects.
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U2 - 10.1016/S1471-4914(03)00141-2
DO - 10.1016/S1471-4914(03)00141-2
M3 - Review article
C2 - 13129704
AN - SCOPUS:0141458167
VL - 9
SP - 383
EP - 389
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
SN - 1471-4914
IS - 9
ER -