Chromosomal localization of the human homeo box-containing genes, EN1 and EN2

doi:10.1016/0888-7543(89)90301-7

Genomics

Volume 4, Issue 2, February 1989, Pages 206-209

https://doi.org/10.1016/0888-7543(89)90301-7 Get rights and content

Abstract

The human homologs of the mouse homeo box-containing genes, En-1 and En-2, which show homology to the Drosophila engrailed gene, have been isolated. The human EN1 gene was mapped to chromosome 2 by analysis of mouse-human somatic cell hybrids. The human EN2 gene was localized to chromosome 7, 7q32-7qter, by analysis of rodent-human somatic cell hybrids and cell lines carrying portions of chromosome 7.

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The expression patterns of the homeo box-containing genes En-1 and En-2, and the proto-oncogene int-1 diverge during mouse development

Genes Dev

(1988)

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The Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma
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Citation Excerpt :
Autosomal dominant inheritance of the trait was supported by the presence of affected individuals in each generation and equal numbers of affected men and women. The gene itself has not yet been discovered, and this linkage has not been replicated to date, but candidate genes mapped to this region of chromosome 7 include a homeobox gene involved in the development of the forebrain,94 a muscarinic acetylcholine receptor gene,19 the human endothelial nitric oxide synthase gene NOS3,134 and a gene associated with human cyclops.52 Also, the gene responsible for phenylthiocarbamide tasting has been mapped to the telomeric portion of the long arm of chromosome 7 and could serve as a genetic marker for this region.30
We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental—as well as anatomical—risk factors.
A question of balance: A proposal for new mouse models of autism
2005, International Journal of Developmental Neuroscience
Citation Excerpt :
As mentioned previously, chromosomes 2 and 7 are among the top candidate regions for autism susceptibility genes. Mapping adjacent to the region of interest on chromosome 7 is Engrailed-2 (EN2), located at 7q36 (Logan et al., 1989; Poole et al., 1989). Based on its location as well as role in CNS development, EN2 has been investigated for a link to autism.
Autism spectrum disorder (ASD) represents a major mental health problem with estimates of prevalence ranging from 1/500 to 1/2000. While generally recognized as developmental in origin, little to nothing is certain about its etiology. Currently, diagnosis is made on the basis of a variety of early developmental delays and/or regressions in behavior. There are no universally agreed upon changes in brain structure or cell composition. No biomarkers of any type are available to aid or confirm the clinical diagnosis. In addition, while estimates of the heritability of the condition range from 60 to 90%, as of this writing no disease gene has been unequivocally identified. The prevalence of autism is three- to four-fold higher in males than in females, but the reason for this sexual dimorphism is unknown. In light of all of these ambiguities, a proposal to discuss potential animal models may seem the heart of madness. However, parsing autism into its individual genetic, behavioral, and neurobiological components has already facilitated a ‘conversation’ between the human disease and the neuropathology and biochemistry underlying the disorder. Building on these results, it should be possible to not just replicate one aspect of autism but to connect the developmental abnormalities underlying the ultimate behavioral phenotype. A reciprocal conversation such as this, wherein the human disease informs on how to make a better animal model and the animal model teaches of the biology causal to autism, would be highly beneficial.
Cerebellum development and schizophrenia: An association study of the human homeogene Engrailed 2
2004, Psychiatry Research
Epidemiological data and family studies in schizophrenia show that genetic factors contribute to the vulnerability to this disorder. The homeogene Engrailed 2 (EN2) is specifically involved in patterning the region that gives rise to the cerebellum and controls the plasticity of midbrain dopaminergic neurons. We carried out an association study for a CA repeat polymorphism located in the 3′ region of the homeogene EN2. The subjects consisted of 165 patients with schizophrenia and 97 controls matched for age and ethnicity from a French Caucasian population. We found no significant association of schizophrenia with this bi-nucleotide repeat polymorphism of the EN2 gene.
The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans
1993, FEBS Letters
Two newly identified human homeobox-containing genes, GBX1 and GBX2, are closely related genes, as are members of the other homeobox genes, EN-1 and EN-2. GBX1 and EN-2 have been mapped to chromosome 7q36. The present study shows that GBX2was mapped to chromosome 2q37. EN-1 was mapped to chromosome 2q14. Moreover, two HOX complexes neighbored by the EVX gene, HOXA and HOXD, are located at chromosome 7p15-p14 and 2q31-q37, respectively. Thus, it is possible that these homeobox genes were linked to each other on an ancestral genome and that the ancestral chromosome segment was duplicated during evolution.
Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells
1993, FEBS Letters
A homeobox is a DNA sequence of 180 base pairs that encodes a DNA-binding domain known as a homeodomain. The polymerase chain reaction (PCR) has been used to prepare probes of homeobox-containing genes. We cloned and sequenced the amplified products of PCR that was performed with human genomic DNA and two primers that correspond to well-conserved regions in homeoboxes. Fifteen kinds of homeobox gene were identified and 13 of them were assigned to HOX genes that have already been reported. Two others represented novel homeobox genes and one of them, GBX1, was mapped to chromosome 7q36.1 by fluorescence in situ hybridization. Northern hybridization of mRNA for various kinds of hematopoietic cell showed that the newly identified GBX1 gene is expressed in K562 cells and Daudi cells.
Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21
1993, Genomics
The human homeobox-containing genes EN1 and EN2 are closely related to the Drosophila pattern formation gene engrailed (en), which may be important in brain development, as shown by gene expression studies during mouse embryogenesis. Here, we have refined the localization of EN1 to human chromosome 2q13-q21 using a mapping panel of rodent/human cell hybrids containing different regions of chromosome 2 and a lymphoblastoid cell line with an interstitial deletion, del(2)(q21-q23.2). This regional assignment of EN1 increases to 22 the number of currently known genes on human chromosome 2q that have homologs on the proximal region of mouse chromosome 1.

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Genomics

Abstract

References (23)

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

Anal. Biochem

Expression during embryogenesis of a mouse gene with sequence homology to the Drosophila engrailed gene

Cell

Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila

Cell

Molecular cloning and chromosome mapping of a mouse DNA sequence homologous to homeotic genes of Drosophila

Cell

The engrailed locus of Drosophila: Structural analysis of an embryonic transcript

Cell

Establishment of a molecular genetic map of distal mouse chromosome 1: Further definition of a conserved linkage group synthenic with human chromosome 1q

Genomics

Assignment of structural gene for asparagine synthetase to human chromosome 7

Somatic Cell Genet

Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7

EMBO J

Human homeo box-containing genes located at chromosome regions 2q31-2q37 and 12q12-12q13

Amer. J. Hum. Genet

Expression of the homeo box-containing gene En-2 delineates a specific region of the developing mouse brain

Genes Dev

The expression patterns of the homeo box-containing genes En-1 and En-2, and the proto-oncogene int-1 diverge during mouse development

Genes Dev

Cited by (40)

The Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma

A question of balance: A proposal for new mouse models of autism

Cerebellum development and schizophrenia: An association study of the human homeogene Engrailed 2

The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans

Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells

Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21

Short communicationChromosomal localization of the human homeo box-containing genes, EN1 and EN2

Abstract

Anal. Biochem

Cell

Cell

Cell

Cell

Genomics

Assignment of structural gene for asparagine synthetase to human chromosome 7

Somatic Cell Genet

Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7

EMBO J

Human homeo box-containing genes located at chromosome regions 2q31-2q37 and 12q12-12q13

Amer. J. Hum. Genet

Expression of the homeo box-containing gene En-2 delineates a specific region of the developing mouse brain

Genes Dev

The expression patterns of the homeo box-containing genes En-1 and En-2, and the proto-oncogene int-1 diverge during mouse development

Genes Dev

Short communication
Chromosomal localization of the human homeo box-containing genes, EN1 and EN2