Abstract
DiGeorge syndrome is mainly caused by a multigene, heterozygous, interstitial chromosomal deletion. Of the approximately 30 deleted genes, Tbx1 is the only gene that, after an extensive functional analysis in the mouse, has been found to be haploinsufficient. The mutant phenotype is convincingly similar to the human syndrome, and its human homolog, TBX1, is the only gene for which mutations have been found in some patients without the chromosomal deletion. The research interest in this syndrome is driven not only by the obvious clinical significance of the disease but also by a broader biological importance. In particular, this syndrome is the most typical developmental defect of the embryonic pharyngeal system: a transient, vertebrate-specific structure that contributes to diverse tissues of the head, neck and thorax. Many birth defects, including a large fraction of congenital heart disease cases, derive from developmental problems of the pharyngeal system. Tbx1 is an excellent tool to probe the genetic network governing embryonic pharyngeal development.
| Original language | English |
|---|---|
| Pages (from-to) | 279-284 |
| Number of pages | 6 |
| Journal | Current Opinion in Genetics and Development |
| Volume | 15 |
| Issue number | 3 SPEC. ISS. |
| DOIs | |
| Publication status | Published - Jun 2005 |
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ASJC Scopus subject areas
- Genetics
Cite this
Dissecting contiguous gene defects : TBX1. / Baldini, Antonio.
In: Current Opinion in Genetics and Development, Vol. 15, No. 3 SPEC. ISS., 06.2005, p. 279-284.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Dissecting contiguous gene defects
T2 - TBX1
AU - Baldini, Antonio
PY - 2005/6
Y1 - 2005/6
N2 - DiGeorge syndrome is mainly caused by a multigene, heterozygous, interstitial chromosomal deletion. Of the approximately 30 deleted genes, Tbx1 is the only gene that, after an extensive functional analysis in the mouse, has been found to be haploinsufficient. The mutant phenotype is convincingly similar to the human syndrome, and its human homolog, TBX1, is the only gene for which mutations have been found in some patients without the chromosomal deletion. The research interest in this syndrome is driven not only by the obvious clinical significance of the disease but also by a broader biological importance. In particular, this syndrome is the most typical developmental defect of the embryonic pharyngeal system: a transient, vertebrate-specific structure that contributes to diverse tissues of the head, neck and thorax. Many birth defects, including a large fraction of congenital heart disease cases, derive from developmental problems of the pharyngeal system. Tbx1 is an excellent tool to probe the genetic network governing embryonic pharyngeal development.
AB - DiGeorge syndrome is mainly caused by a multigene, heterozygous, interstitial chromosomal deletion. Of the approximately 30 deleted genes, Tbx1 is the only gene that, after an extensive functional analysis in the mouse, has been found to be haploinsufficient. The mutant phenotype is convincingly similar to the human syndrome, and its human homolog, TBX1, is the only gene for which mutations have been found in some patients without the chromosomal deletion. The research interest in this syndrome is driven not only by the obvious clinical significance of the disease but also by a broader biological importance. In particular, this syndrome is the most typical developmental defect of the embryonic pharyngeal system: a transient, vertebrate-specific structure that contributes to diverse tissues of the head, neck and thorax. Many birth defects, including a large fraction of congenital heart disease cases, derive from developmental problems of the pharyngeal system. Tbx1 is an excellent tool to probe the genetic network governing embryonic pharyngeal development.
UR - http://www.scopus.com/inward/record.url?scp=19444371444&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=19444371444&partnerID=8YFLogxK
U2 - 10.1016/j.gde.2005.03.001
DO - 10.1016/j.gde.2005.03.001
M3 - Article
C2 - 15917203
AN - SCOPUS:19444371444
VL - 15
SP - 279
EP - 284
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
SN - 0959-437X
IS - 3 SPEC. ISS.
ER -