Expression of the Homeobox-containing Genes EN1 and EN2 in Human Fetal Midgestational Medulla and Cerebellum

Zec, Natasa; Rowitch, David H.; Bitgood, Mark Joseph; Kinney, Hannah C.

doi:10.1097/00005072-199703000-00002

Cited by 37 publications

(23 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Deficits in two spatial learning and memory tasks were also observed [Cheh et al, 2006]. Additionally, in human beings cerebellar hypoplasia could result from a mutation or deletion in the EN2 gene [Zec et al, 1997;Sarnat et al, 2002]. All these results supported the possibility that EN2 gene might be involved in the pathogenesis of autism.…”

Section: Introductionmentioning

confidence: 62%

Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population

Wang

Jia

Yue

et al. 2008

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Human ENGRAILED 2 (EN2) gene is localized to 7q36, an autism susceptibility locus. En2 knockout mice display hypoplasia of cerebellum and a decrease in the number of Purkinje cell, which are similar to those reported for individuals with autism. Furthermore, deficits in social behavior were detected in En2(-/-) mice. Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism. To investigate whether this finding could be replicated in Chinese Han population, we performed the association study between eight single nucleotide polymorphisms (SNPs) of the EN2 gene and autism in 210 Chinese Han trios, using the family-based association test (FBAT). The present study demonstrated that a preferential transmission of the rs3824068 A-allele to affected offspring (A > G: Z = 2.399, P = 0.0165). After the Bonferroni correction, this statistical significance of preferential transmission did not remain. However, when haplotypes were constructed with multiple markers, a number of haplotypes including three two-marker haplotypes, nine three-marker haplotypes, one four-marker haplotype, and one six-marker haplotype, all of which contain the major allele A of rs3824068, displayed significantly associated with autism. These results were still significant after using the permutation method to obtain empirical P values. Thus, our data provide evidence that the EN2 gene may be implicated in the predisposition to autism in the Chinese Han population.

show abstract

Section: Introductionmentioning

confidence: 62%

Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population

Wang

Jia

Yue

et al. 2008

American J of Med Genetics Pt B

View full text Add to dashboard Cite

show abstract

“…Homeobox-containing genes EN-1 and EN-2 have been implicated in the control of pattern formation during development of the central nervous system in experimental animals. Expression of EN genes was demonstrated in all neuronal groups of the medulla and cerebellum after in situ hybridization with human EN-1 and EN-2 RNA probes in the medulla and cerebellum of human embryos (18 -21 weeks gestational age) (Zec et al, 1997).…”

Section: Discussionmentioning

confidence: 99%

Möbius sequence in children exposed in utero to misoprostol: Neuropathological study of three cases

Marques-Dias

Gonzalez

Rosemberg

2003

Birth Defects Research

View full text Add to dashboard Cite

show abstract

“…The engrailed genes have been investigated in protostomes and deuterostomes, from annelids , molluscs (Wanninger and Haszprunar 2001), insects, and crustaceans (Duman-Scheel and Patel 1999;Patel et al 1989;Scholtz et al 1994) to echinoderms (Lowe and Wray 1997) and chordates, such as amphioxus (Holland et al 1997) and many vertebrate species (Ekker et al 1992;Joyner et al 1985;Koster et al 1996;Logan et al 1992;Lopez-Corrales et al 1998) including man (Barak et al 2003;Zec et al 1997). Engrailed was first mentioned as a spontaneously occurring mutation in Drosophila melanogaster (Eker 1929).…”

Section: Introductionmentioning

confidence: 99%

Midbrain dopaminergic neurons: control of their cell fate by the engrailed transcription factors

2004

View full text Add to dashboard Cite

As for any other cell population, the development, cell fate, and properties of mesencephalic dopaminergic (mesDA) neurons are ultimately controlled at the transcriptional level. The genes for two transcription factors Engrailed-1 ( En1) and Engrailed-2 ( En2) play an essential role in the development and maintenance of these cells. They belong to a family of genes that have been investigated in Drosophila for more than half a century. The products of these genes are all characterized by homeotic tissue transformation and a highly conserved protein sequence, the homeobox. En1 and En2 act upon at least two steps of the differentiation of mesDA neurons. They take part in the regionalization event, which gives rise to the neuroepithelium that provides the precursor cells in the ventral midbrain with the fibroblast growth factor 8 signal necessary for their induction. Additionally, these genes are required in postmitotic mesDA neurons in which they are expressed from embryonic day 12 continuously into adulthood. In mutant mice homozygous null for En1 and En2, the neurons are generated in the ventral midbrain, become postmitotic, and begin to express their neurotransmitter phenotype. However, thereafter, they rapidly die by apoptosis. Cell mixing experiments in vitro and in vivo have demonstrated that the engrailed requirement for the survival of mesDA neurons is cell-autonomous. The inactivation of engrailed by RNA interference induces apoptosis in less than 24 h. These data suggest that the engrailed genes control an essential mechanism for the survival of mesDA neurons.

show abstract

Expression of the Homeobox-containing Genes EN1 and EN2 in Human Fetal Midgestational Medulla and Cerebellum

Cited by 37 publications

References 0 publications

Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population

Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population

Möbius sequence in children exposed in utero to misoprostol: Neuropathological study of three cases

Midbrain dopaminergic neurons: control of their cell fate by the engrailed transcription factors

Contact Info

Product

Resources

About