Expression and function of Pax 1 during development of the pectoral girdle

Development ◽  
1994 ◽  
Vol 120 (10) ◽  
pp. 2773-2785 ◽  
Author(s):  
P.M. Timmons ◽  
J. Wallin ◽  
P.W. Rigby ◽  
R. Balling
Keyword(s):  
Gene Family ◽  
Functional Significance ◽  
Vertebral Column ◽  
Axial Skeleton ◽  
Intervertebral Discs ◽  
Appendicular Skeleton ◽  
Pectoral Girdle ◽  
Phenotypic Analysis ◽  
Developmental Abnormalities ◽  
And Function

Pax 1 is a member of the paired-box containing gene family. Expression has previously been observed in the developing sclerotomes and later in the anlagen of the intervertebral discs. Analysis of Pax 1-deficient undulated mice revealed an important role for this gene in the development of the axial skeleton, in which Pax 1 apparently functions as a mediator of notochordal signals during sclerotome differentiation. Here we demonstrate that Pax 1 is also transiently expressed in the developing limb buds. A comparative phenotypic analysis of different undulated alleles shows that this expression is of functional significance. In mice that are mutant for the Pax 1 gene severe developmental abnormalities are found in the pectoral girdle. These include fusions of skeletal elements which would normally remain separate, and failures in the differentiation of blastemas into cartilaginous structures. Although Pax 1 is also expressed in the developing hindlimb buds and Wolffian ridge, no malformations could be detected in the corresponding regions of Pax 1 mutant mice. These findings show that, in addition to its role in the developing vertebral column, Pax 1 has an important function in the development of parts of the appendicular skeleton.

The paired homeobox gene Uncx4.1 specifies pedicles, transverse processes and proximal ribs of the vertebral column

Development ◽  
2000 ◽  
Vol 127 (11) ◽  
pp. 2259-2267 ◽  
Author(s):  
M. Leitges ◽  
L. Neidhardt ◽  
B. Haenig ◽  
B.G. Herrmann ◽  
A. Kispert
Keyword(s):  
Transcription Factor ◽  
Vertebral Column ◽  
Cell Mass ◽  
Homeobox Gene ◽  
Mesenchymal Cell ◽  
Axial Skeleton ◽  
Intervertebral Discs ◽  
Medial Part ◽  
Targeted Mutation ◽  
Vertebral Bodies

The axial skeleton develops from the sclerotome, a mesenchymal cell mass derived from the ventral halves of the somites, segmentally repeated units located on either side of the neural tube. Cells from the medial part of the sclerotome form the axial perichondral tube, which gives rise to vertebral bodies and intervertebral discs; the lateral regions of the sclerotome will form the vertebral arches and ribs. Mesenchymal sclerotome cells condense and differentiate into chondrocytes to form a cartilaginous pre-skeleton that is later replaced by bone tissue. Uncx4.1 is a paired type homeodomain transcription factor expressed in a dynamic pattern in the somite and sclerotome. Here we show that mice homozygous for a targeted mutation of the Uncx4.1 gene die perinatally and exhibit severe malformations of the axial skeleton. Pedicles, transverse processes and proximal ribs, elements derived from the lateral sclerotome, are lacking along the entire length of the vertebral column. The mesenchymal anlagen for these elements are formed initially, but condensation and chondrogenesis do not occur. Hence, Uncx4.1 is required for the maintenance and differentiation of particular elements of the axial skeleton.

The locomotor system

2013 ◽  
Author(s):  
Martin E. Atkinson
Keyword(s):  
Vertebral Column ◽  
Cervical Vertebrae ◽  
Lumbar Vertebrae ◽  
Posterior Wall ◽  
Axial Skeleton ◽  
Intervertebral Discs ◽  
Central Canal ◽  
The Body ◽  
Thoracic Vertebrae ◽  
Locomotor System

The locomotor system comprises the skeleton, composed principally of bone and cartilage, the joints between them, and the muscles which move bones at joints. The skeleton forms a supporting framework for the body and provides the levers to which the muscles are attached to produce movement of parts of the body in relation to each other or movement of the body as a whole in relation to its environment. The skeleton also plays a crucial role in the protection of internal organs. The skeleton is shown in outline in Figure 2.1A. The skull, vertebral column, and ribs together constitute the axial skeleton. This forms, as its name implies, the axis of the body. The skull houses and protects the brain and the eyes and ears; the anatomy of the skull is absolutely fundamental to the understanding of the structure of the head and is covered in detail in Section 4. The vertebral column surrounds and protects the spinal cord which is enclosed in the spinal canal formed by a large central canal in each vertebra. The vertebral column is formed from 33 individual bones although some of these become fused together. The vertebral column and its component bones are shown from the side in Figure 2.1B. There are seven cervical vertebrae in the neck, twelve thoracic vertebrae in the posterior wall of the thorax, five lumbar vertebrae in the small of the back, five fused sacral vertebrae in the pelvis, and four coccygeal vertebrae—the vestigial remnants of a tail. Intervertebral discs separate individual vertebrae from each other and act as a cushion between the adjacent bones; the discs are absent from the fused sacral vertebrae. The cervical vertebrae are small and very mobile, allowing an extensive range of neck movements and hence changes in head position. The first two cervical vertebrae, the atlas and axis, have unusual shapes and specialized joints that allow nodding and shaking movements of the head on the neck. The thoracic vertebrae are relatively immobile. combination of thoracic vertebral column, ribs, and sternum form the thoracic cage that protects the thoracic organs, the heart, and lungs and is intimately involved in ventilation (breathing).

Pax1 and Pax9 synergistically regulate vertebral column development

Development ◽  
1999 ◽  
Vol 126 (23) ◽  
pp. 5399-5408 ◽  
Author(s):  
H. Peters ◽  
B. Wilm ◽  
N. Sakai ◽  
K. Imai ◽  
R. Maas ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Vertebral Column ◽  
Cell Lineage ◽  
Axial Skeleton ◽  
Intervertebral Discs ◽  
Potential Interaction ◽  
Specific Cell ◽  
Gradual Loss ◽  
Vertebral Bodies

The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family. They encode closely related transcription factors and are expressed in similar patterns during mouse embryogenesis, suggesting that Pax1 and Pax9 act in similar developmental pathways. We have recently shown that mice homozygous for a defined Pax1 null allele exhibit morphological abnormalities of the axial skeleton, which is not affected in homozygous Pax9 mutants. To investigate a potential interaction of the two genes, we analysed Pax1/Pax9 double mutant mice. These mutants completely lack the medial derivatives of the sclerotomes, the vertebral bodies, intervertebral discs and the proximal parts of the ribs. This phenotype is much more severe than that of Pax1 single homozygous mutants. In contrast, the neural arches, which are derived from the lateral regions of the sclerotomes, are formed. The analysis of Pax9 expression in compound mutants indicates that both spatial expansion and upregulation of Pax9 expression account for its compensatory function during sclerotome development in the absence of Pax1. In Pax1/Pax9 double homozygous mutants, formation and anteroposterior polarity of sclerotomes, as well as induction of a chondrocyte-specific cell lineage, appear normal. However, instead of a segmental arrangement of vertebrae and intervertebral disc anlagen, a loose mesenchyme surrounding the notochord is formed. The gradual loss of Sox9 and Collagen II expression in this mesenchyme indicates that the sclerotomes are prevented from undergoing chondrogenesis. The first detectable defect is a low rate of cell proliferation in the ventromedial regions of the sclerotomes after sclerotome formation but before mesenchymal condensation normally occurs. At later stages, an increased number of cells undergoing apoptosis further reduces the area normally forming vertebrae and intervertebral discs. Our results reveal functional redundancy between Pax1 and Pax9 during vertebral column development and identify an early role of Pax1 and Pax9 in the control of cell proliferation during early sclerotome development. In addition, our data indicate that the development of medial and lateral elements of vertebrae is regulated by distinct genetic pathways.

scholarly journals Molecular and phenotypic analysis of rodent models reveals conserved and species-specific modulators of human sarcopenia

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Anastasiya Börsch ◽  
Daniel J. Ham ◽  
Nitish Mittal ◽  
Lionel A. Tintignac ◽  
Eugenia Migliavacca ◽  
...  
Keyword(s):  
Muscle Mass ◽  
Inflammatory Responses ◽  
Molecular Data ◽  
Model Organisms ◽  
Sequencing Data ◽  
Phenotypic Analysis ◽  
Age Related ◽  
Analogous Data ◽  
Species Specific ◽  
And Function

AbstractSarcopenia, the age-related loss of skeletal muscle mass and function, affects 5–13% of individuals aged over 60 years. While rodents are widely-used model organisms, which aspects of sarcopenia are recapitulated in different animal models is unknown. Here we generated a time series of phenotypic measurements and RNA sequencing data in mouse gastrocnemius muscle and analyzed them alongside analogous data from rats and humans. We found that rodents recapitulate mitochondrial changes observed in human sarcopenia, while inflammatory responses are conserved at pathway but not gene level. Perturbations in the extracellular matrix are shared by rats, while mice recapitulate changes in RNA processing and autophagy. We inferred transcription regulators of early and late transcriptome changes, which could be targeted therapeutically. Our study demonstrates that phenotypic measurements, such as muscle mass, are better indicators of muscle health than chronological age and should be considered when analyzing aging-related molecular data.

Gout in the Axial Skeleton

2009 ◽  
Vol 36 (3) ◽  
pp. 609-613 ◽  
Author(s):  
RUKMINI M. KONATALAPALLI ◽  
PAUL J. DEMARCO ◽  
JAMES S. JELINEK ◽  
MARK MURPHEY ◽  
MICHAEL GIBSON ◽  
...  
Keyword(s):  
Facet Joint ◽  
Case Reports ◽  
Case Series ◽  
Lumbar Vertebrae ◽  
Axial Skeleton ◽  
Ct Images ◽  
Common Finding ◽  
Appendicular Skeleton ◽  
Pars Interarticularis ◽  
A Prospective Study

Objective.Gout typically affects the peripheral joints of the appendicular skeleton and rarely involves the axial joints. The literature on axial gout is limited to case reports and case series. This preliminary study was conducted to identify the frequency and characteristics of axial gout.Methods.Six hundred thirty medical records with ICD codes 274.0, 274.82, and 274.9 for peripheral gout were reviewed. Ninety-two patients had clinical or crystal-proven gout, of which 64 had prior computed tomography (CT) images of the spine performed for various medical reasons. These CT images were reviewed for features of axial gout, which include vertebral erosions mainly at the discovertebral junction and the facet joints, deposits of tophi, and erosions in the vertebral body, epidural space, ligamentum flavum and pars interarticularis.Results.Nine of the 64 patients had radiographic changes suggestive of axial gout. Lumbar vertebrae were most commonly involved, with facet joint erosions being the most common finding. Isolated involvement of the sacroiliac joints was seen in 2 patients. Axial gout had been diagnosed clinically in only one patient.Conclusion.Radiologic changes of axial gout were more common than recognized clinically, with a frequency of 14%. Since not all patients had CT images, it is possible that the frequency of axial involvement was even greater. A prospective study is needed to further define this process.

scholarly journals Phylogenetic Comparison and Splicing Analysis of the U1 snRNP-specific Protein U1C in Eukaryotes

2021 ◽  
Vol 8 ◽  
Author(s):  
Kai-Lu Zhang ◽  
Jian-Li Zhou ◽  
Jing-Fang Yang ◽  
Yu-Zhen Zhao ◽  
Debatosh Das ◽  
...  
Keyword(s):  
Gene Family ◽  
Cancer Progression ◽  
Expression Profiles ◽  
Expression Patterns ◽  
Specific Protein ◽  
Comprehensive Overview ◽  
Small Nuclear Ribonucleoprotein ◽  
U1 Snrnp ◽  
Multiple Copies ◽  
And Function

As a pivotal regulator of 5’ splice site recognition, U1 small nuclear ribonucleoprotein (U1 snRNP)-specific protein C (U1C) regulates pre-mRNA splicing by interacting with other components of the U1 snRNP complex. Previous studies have shown that U1 snRNP and its components are linked to a variety of diseases, including cancer. However, the phylogenetic relationships and expression profiles of U1C have not been studied systematically. To this end, we identified a total of 110 animal U1C genes and compared them to homologues from yeast and plants. Bioinformatics analysis shows that the structure and function of U1C proteins is relatively conserved and is found in multiple copies in a few members of the U1C gene family. Furthermore, the expression patterns reveal that U1Cs have potential roles in cancer progression and human development. In summary, our study presents a comprehensive overview of the animal U1C gene family, which can provide fundamental data and potential cues for further research in deciphering the molecular function of this splicing regulator.

scholarly journals The BAHD Gene Family in Cacao (Theobroma cacao, Malvaceae): Genome-Wide Identification and Expression Analysis

2021 ◽  
Vol 9 ◽  
Author(s):  
Abdullah ◽  
Sahar Faraji ◽  
Parviz Heidari ◽  
Péter Poczai
Keyword(s):  
Gene Family ◽  
Theobroma Cacao ◽  
Critical Role ◽  
Divergence Time ◽  
Purifying Selection ◽  
Plant Metabolites ◽  
Corchorus Capsularis ◽  
Cell Stability ◽  
Duplication Events ◽  
And Function

The benzyl alcohol O-acetyl transferase, anthocyanin O-hydroxycinnamoyl transferase, N-hydroxycinnamoyl anthranilate benzoyl transferase, and deacetylvindoline 4-O-acetyltransferase (BAHD) enzymes play a critical role in regulating plant metabolites and affecting cell stability. In the present study, members of the BAHD gene family were recognized in the genome of Theobroma cacao and characterized using various bioinformatics tools. We found 27 non-redundant putative tcBAHD genes in cacao for the first time. Our findings indicate that tcBAHD genes are diverse based on sequence structure, physiochemical properties, and function. When analyzed with BAHDs of Gossypium raimondii and Corchorus capsularis clustered into four main groups. According to phylogenetic analysis, BAHD genes probably evolved drastically after their divergence. The divergence time of duplication events with purifying selection pressure was predicted to range from 1.82 to 15.50 MYA. Pocket analysis revealed that serine amino acid is more common in the binding site than other residuals, reflecting its key role in regulating the activity of tcBAHDs. Furthermore, cis-acting elements related to the responsiveness of stress and hormone, particularly ABA and MeJA, were frequently observed in the promoter region of tcBAHD genes. RNA-seq analysis further illustrated that tcBAHD13 and tcBAHD26 are involved in response to Phytophthora megakarya fungi. In conclusion, it is likely that evolutionary processes, such as duplication events, have caused high diversity in the structure and function of tcBAHD genes.

A new specimen of Chasmosaurus belli (Ornithischia: Ceratopsidae), a revision of the genus, and the utility of postcrania in the taxonomy and systematics of ceratopsid dinosaurs

Zootaxa ◽  
2011 ◽  
Vol 2963 (1) ◽  
pp. 1 ◽  
Author(s):  
SUSANNAH C. R. MAIDMENT ◽  
PAUL M. BARRETT
Keyword(s):  
Vertebral Column ◽  
Detailed Examination ◽  
Pectoral Girdle ◽  
Postcranial Morphology ◽  
Taxonomic Studies ◽  
Dinosaur Park Formation ◽  
First Time

A previously undescribed chasmosaurine specimen excavated in 1919-1920 by William Cutler from the Dinosaur Park Formation of Alberta, Canada is referable to Chasmosaurus belli. The specimen comprises an almost complete skull in which, uniquely among Chasmosaurus, the cranial elements are disarticulated, allowing detailed examination of their morphology for the first time. The complete braincase is present and allows comparison with the braincase of other ceratopsians. The specimen also preserves an uncrushed and undistorted postcranium, including cervical, dorsal and sacral vertebrae and limb elements. The vertebral column of Chasmosaurus has never previously been described in detail, and NHMUK R4948 affords the opportunity to examine it because of the unparalleled state of vertebral preservation. A proliferation of new chasmosaurine genera has recently been described; many of them differ from each other only in details of frill and epiparietal morphology. Several of these are based on specimens previously referred to Chasmosaurus. As a result, the characters that distinguish Chasmosaurus from other Campanian chasmosaurines are unclear. However, the genus Chasmosaurus and species within the genus are diagnosable and valid based on unique combinations of characters and frill morphology. Detailed examination of the postcranial morphology of a variety of centrosaurines and chasmosaurines has highlighted previously undescribed synapomorphies for the two major ceratopsid clades, concentrated in the pectoral girdle and forelimb. Inconsistencies in the vertebral formula of specimens referred to Chasmosaurus belli suggests that the postcrania of ceratopsids may vary between species and genera far more than previously thought, and that postcranial characters should be incorporated into phylogenetic and taxonomic studies.

Distribution and function of the lethal of scute gene product during early neurogenesis in Drosophila

Development ◽  
1991 ◽  
Vol 113 (2) ◽  
pp. 445-454 ◽  
Author(s):  
M.D. Martin-Bermudo ◽  
C. Martinez ◽  
A. Rodriguez ◽  
F. Jimenez
Keyword(s):  
Central Nervous System ◽  
Drosophila Embryo ◽  
Fushi Tarazu ◽  
Phenotypic Analysis ◽  
Neuronal Identity ◽  
The Central Nervous System ◽  
Early Neurogenesis ◽  
And Function ◽  
High Degree ◽  
Peripheral Sensory

Genes of the achaete-scute complex (ASC) participate in the formation of the central nervous system in the Drosophila embryo. Previous genetic analyses have indicated that lethal of scute (l'sc) is the most important gene of the complex in that process. We have obtained antibodies against the l'sc protein to study the expression of the gene during early neurogenesis. The protein is found in groups of embryonic neuroectodermal cells, analogous to the proneural clusters that precede the appearance of precursors of peripheral sensory organs in imaginal epithelia. The groups appear in different regions of the neuroectoderm, accompanying the three successive waves of neuroblast segregation. Most neuroblasts delaminate from these clusters and express position-specific levels of l'sc protein. No significant differences have been found between the distribution of l'sc RNA and protein. Phenotypic analysis of a l'sc deficiency has shown that the gene is required for neuroblast commitment, although this requirement is less widespread than the domain of l'sc expression, suggesting a high degree of redundancy in the function of genes that participate in the process of neuroblast segregation. The ASC genes have been postulated to play a role in the control of NB identity, revealed by the generation of a defined lineage of identifiable neurons. However, our study in l'sc mutants of the expression of fushi tarazu, engrailed, and even-skipped, used as markers of neuronal identity, has not provided evidence to support this hypothesis.

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