TY - JOUR
T1 - Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene
AU - Villanueva, Melissa P.
AU - Aiyer, Aparna R.
AU - Muller, Shaine
AU - Pletcher, Mathew T.
AU - Liu, Xiao
AU - Emanuel, Beverly
AU - Srivastava, Deepak
AU - Reeves, Roger H.
N1 - Funding Information:
This work was supported in part by awards from the March of Dimes and Smile Train (D.S.) and by PHS awards from NHLBI (D.S.), HD26979 (B.S.E.), and DC02027 (R.H.R. and B.S.E.).
PY - 2002
Y1 - 2002
N2 - The helix-loop-helix transcription factor HAND2 plays a vital role in the development of the heart, limb, facies, and other neural crest-derived structures. We used differential display analysis to identify 33 putative HAND2-regulated ESTs that are differentially expressed in Hand2-/- vs wild-type mice. We determined the positions on mouse and human genetic maps of 29 of these by using the T31 mouse Radiation Hybrid panel, comparison to human genomic sequence, and comparative mapping. We examined the conserved chromosomal locations for phenotypes that involve development of heart, face, and limb structures that are affected by HAND2. One EST mapped to a region of conserved synteny between mouse chromosome 2 and human chromosome 10p. RACE analysis extended the sequence and identified this cDNA as the mouse ortholog of human nebulette, an actin-binding protein expressed in fetal heart. Nebulette was shown to be deleted in DiGeorge Syndrome 2 patients with the proximal deletion of human 10p13-p14 that is associated with cardiac and craniofacial abnormalities.
AB - The helix-loop-helix transcription factor HAND2 plays a vital role in the development of the heart, limb, facies, and other neural crest-derived structures. We used differential display analysis to identify 33 putative HAND2-regulated ESTs that are differentially expressed in Hand2-/- vs wild-type mice. We determined the positions on mouse and human genetic maps of 29 of these by using the T31 mouse Radiation Hybrid panel, comparison to human genomic sequence, and comparative mapping. We examined the conserved chromosomal locations for phenotypes that involve development of heart, face, and limb structures that are affected by HAND2. One EST mapped to a region of conserved synteny between mouse chromosome 2 and human chromosome 10p. RACE analysis extended the sequence and identified this cDNA as the mouse ortholog of human nebulette, an actin-binding protein expressed in fetal heart. Nebulette was shown to be deleted in DiGeorge Syndrome 2 patients with the proximal deletion of human 10p13-p14 that is associated with cardiac and craniofacial abnormalities.
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U2 - 10.1006/geno.2002.7009
DO - 10.1006/geno.2002.7009
M3 - Article
C2 - 12504851
AN - SCOPUS:12244273279
SN - 0888-7543
VL - 80
SP - 593
EP - 600
JO - Genomics
JF - Genomics
IS - 6
ER -