The Genomic Organization and the Full Coding Region of the Human PAX7 Gene

Vorobyov, Eugene; Мерцалов, И. Б.; Dockhorn‐Dworniczak, Barbara; Dworniczak, Bernd; Horst, Jürgen

doi:10.1006/geno.1997.4915

Cited by 23 publications

(11 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Note that residues considered to be Pax-6-specific are present in paired-like homeodomains, and also the conservation of N-and C-terminal flanking regions across the Pax and paired-like classes. The downward arrowhead indicates the position of a splice site that is common to Pax-Cam, most Pax-6 homologs (reviewed in Callaerts et al 1997), PAX-7 (Vorobyov et al 1997), PAX-3 (Macina et al 1995) and many paired-like genes (reviewed in Bürglin 1994). For mouse rax and Arx, no genomic data are available, however this splice site appears to be present in the human Arx locus (AC002504)& / f i g .…”

Section: Resultsmentioning

confidence: 99%

Pax-6 origins - implications from the structure of two coral Pax genes

Catmull

Hayward

McIntyre

et al. 1998

Development Genes and Evolution

View full text Add to dashboard Cite

Vertebrate Pax-6 and its Drosophila homolog eyeless play central roles in eye specification, although it is not clear if this represents the ancestral role of this gene class. As the most "primitive" animals with true nervous systems, the Cnidaria may be informative in terms of the evolution of the Pax gene family. For this reason we surveyed the Pax gene complement of a representative of the basal cnidarian class (the Anthozoa), the coral Acropora millepora. cDNAs encoding two coral Pax proteins were isolated. Pax-Aam encoded a protein containing only a paired domain, whereas Pax-Cam also contained a homeodomain clearly related to those in the Pax-6 family. The paired domains in both proteins most resembled the vertebrate Pax-2/5/8 class, but shared several distinctive substitutions. As in most Pax-6 homologs and orthologs, an intron was present in the Pax-Cam locus at a position corresponding to residues 46/47 in the homeodomain. We propose a model for evolution of the Pax family, in which the ancestor of all of the vertebrate Pax genes most resembled Pax-6, and arose via fusion of a Pax-Aam-like gene (encoding only a paired domain) with an anteriorly-expressed homeobox gene resembling the paired-like class.

show abstract

Section: Resultsmentioning

confidence: 99%

Pax-6 origins - implications from the structure of two coral Pax genes

Catmull

Hayward

McIntyre

et al. 1998

Development Genes and Evolution

View full text Add to dashboard Cite

show abstract

“…A human homologue of the candidate for the Mom1 locus has been mapped to 1p35-p36.1 (Praml et al, 1995). Other genes or homologues to genes involved in cell growth and fidelity are: transcription factors, E2F2 on 1p36.11 (Lees et al, 1993), PAX7 on 1p36.1 (Vorobyov et al, 1997) and L-myc on 1p34.3 (Speleman et al, 1996); replication protein gene RPA2 on 1p35 (Ozawa et al, 1993); death receptor genes, TR2 (Kwon et al, 1997), TNFR2 (Kemper et al, 1991), DR3 (Bodmer et al, 1997) and DR5 (Wu et al, 1997), all on 1p36; other receptor genes, PTAFR on 1p34.3-p35 (Chase et al, 1996), TGFβR3 on 1p32-p33 (Johnson et al, 1995) and IL12Rβ2 on 1p31.2 (Yamamoto et al, 1997); prostaglandin receptors, PTGER3 on 1p31.2 and PTGFR on 1p31.1 (Duncan et al, 1995); tyrosine kinases, ECK on 1p36.1 (Sulman et al, 1997), LCK on 1p35 (Volpi et al, 1994) and JAK1 on 1p31.3-p32.3 (Modi et al, 1995); dual specific kinase ERK (Saito et al, 1995) on 1p36.1; repair protein genes, RAD54 on 1p32 (Rasio et al, 1997); and GADD45 on 1p31.1-p31.2 (Hey et al, 1996); cell cycle control proteins , 70 60 50 40 30 20 10 0 D1S243 D1S468 D1S214 D1S228 D1S507 D1S436 D1S201 D1S209 D1S216 D1S207 D1S488 D1S167 D1S435 70 60 50 40 30 20 10 0 A B %LOH %LOH D1S243 D1S468 D1S214 D1S228 D1S507 D1S436 D1S201 D1S209 D1S216 D1S207 D1S488 D1S167 D1S435 70 60 50 40 30 20 10 0 D %LOH D1S243 D1S468 D1S214 D1S228 D1S507 D1S436 D1S201 D1S209 D1S216 D1S207 D1S488 D1S167 D1S435 70 60 50 40 30 20 …”

Section: Discussionmentioning

confidence: 99%

Loss of heterozygosity at chromosome 1p in different solid human tumours: association with survival

et al. 1999

View full text Add to dashboard Cite

SummaryThe distal half of chromosome 1p was analysed with 15 polymorphic microsatellite markers in 683 human solid tumours at different locations. Loss of heterozygosity (LOH) was observed at least at one site in 369 cases or 54% of the tumours. LOHs detected ranged from 30-64%, depending on tumour location. The major results regarding LOH at different tumour locations were as follows: stomach, 20/38 (53%); colon and rectum, 60/109 (55%); lung, 38/63 (60%); breast, 145/238 (61%); endometrium, 18/25 (72%); ovary, 17/31 (55%); testis, 11/30 (37%); kidney, 22/73 (30%); thyroid, 4/14 (29%); and sarcomas, 9/14 (64%). High percentages of LOH were seen in the 1p36.3, 1p36.1, 1p35-p34.3, 1p32 and 1p31 regions, suggesting the presence of tumour-suppressor genes. All these regions on chromosome 1p show high LOH in more than one tumour type. However, distinct patterns of LOH were detected at different tumour locations. There was a significant separation of survival curves, with and without LOH at chromosome 1p, in the breast cancer patients. Multivariate analysis showed that LOH at 1p in breast tumours is a better indicator for prognosis than the other variables tested in our model, including nodal metastasis.

show abstract

“…Notably, the role of Pax3 and Pax7 during specification of the NC lineage is distinct in chick and Xenopus when compared with mouse (Sato et al, 2005;; in mice, Pax3 and Pax7 function to upregulate the downstream NC specifier genes Snail, Foxd3 (forkhead box D3) and Sox genes, which are said to then 'imbue' the cell to become a competent NC cell (Bronner, 2012). Although the structures of their DNA-binding domains are similar (Vorobyov et al, 1997), differences in Pax3 and Pax7 function and regulation during NC development have been identified. Using Pax7-cre/reporter mice, Pax7-expressing precursors were noted to be distinct from Pax3-expressing NC precursors, and principally contribute to the cranial NC derivatives of the frontal and parietal bones of the skull, meninges, teeth, trigeminal ganglia, whisker follicles, olfactory epithelium and cartilage of the nasal septum Murdoch et al, 2012).…”

Section: Pax3cmentioning

confidence: 99%

Pax genes: regulators of lineage specification and progenitor cell maintenance

2014

View full text Add to dashboard Cite

Pax genes encode a family of transcription factors that orchestrate complex processes of lineage determination in the developing embryo. Their key role is to specify and maintain progenitor cells through use of complex molecular mechanisms such as alternate RNA splice forms and gene activation or inhibition in conjunction with protein co-factors. The significance of Pax genes in development is highlighted by abnormalities that arise from the expression of mutant Pax genes. Here, we review the molecular functions of Pax genes during development and detail the regulatory mechanisms by which they specify and maintain progenitor cells across various tissue lineages. We also discuss mechanistic insights into the roles of Pax genes in regeneration and in adult diseases, including cancer. KEY WORDS: Pax genes, Embryogenesis, Lineage determination IntroductionPaired box (Pax) genes encode transcription factors that contain a highly conserved DNA-binding domain called the paired domain (PD, Fig. 1A) and can be considered to be a principle regulator of gene expression. Nine Pax genes (Pax1-Pax9) have been characterised in mammals and the evolutionary conserved paired domain has been identified across phylogenies from insects, to amphibians and birds. In higher vertebrates, PAX proteins are subclassified into groups according to inclusion of an additional DNA-binding homeodomain and/or an octapeptide region, which serves as a binding motif for protein co-factors for potent inhibition of downstream gene transcription (Eberhard et al., 2000) (Fig. 1B); all PAX proteins include a transactivation domain located within the C-terminal amino acids (Underhill, 2012). It is also known that all Pax genes, with the exception of Pax4 and Pax9, produce alternative RNA transcripts (see Table 1). The functional diversity of Pax proteins in vivo is thus linked to the ability to produce alternatively spliced gene products that differ in structure and, consequently, in the binding activity of their paired and homeodomain DNA-binding regions (Underhill, 2012).Three decades ago, the characterisation and roles of Pax genes in embryonic development began to unfold. Early studies discovered that regulatory gene families such as the Pax family are involved in the sequential compartmentalisation and body patterning of developing organisms; thereafter, studies highlighted a role for Pax genes in the early specification of cell fate and the subsequent morphogenesis of various tissues and organs. Following this, mutational studies of Pax genes confirmed the importance of these regulatory roles in the PRIMER School of Medical Sciences, Edith Cowan University, Joondalup, WA 6027, Australia.*Author for correspondence (j.blake@ecu.edu.au) This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed.initiation and progression of ...

show abstract

The Genomic Organization and the Full Coding Region of the Human PAX7 Gene

Cited by 23 publications

References 24 publications

Pax-6 origins - implications from the structure of two coral Pax genes

Pax-6 origins - implications from the structure of two coral Pax genes

Loss of heterozygosity at chromosome 1p in different solid human tumours: association with survival

Pax genes: regulators of lineage specification and progenitor cell maintenance

Contact Info

Product

Resources

About