A. Puliti et al., HOX11L1, a gene involved in peripheral nervous system development, maps tohuman chromosome 2p13.1 -> p12 and mouse chromosome 6C3-D1, CYTOG C GEN, 84(1-2), 1999, pp. 115-117
HOX11L1 is a homeobox gene involved in peripheral nervous system developmen
t as confirmed by knockout mice exhibiting megacolon with enteric ganglia,
a phenotype associated in human with Intestinal Neuronal Dysplasia (IND). U
sing FISH and radiation hybrids we have localized HOX11L1 to human chromoso
me 2p13.1 --> p12, in a 14-cR interval between WI-5987 (D2S2088) and GCT1B4
(D2S2497), and confirmed the synteny between mouse 6C3D1 and human 2p13.1
--> p12 chromosomes by mapping an EST cDNA clone corresponding to mouse HOX
11L1 (Tlx2).