Cell Signaling Regulation of Vertebrate Limb Growth and Patterning

Yang, Yingzi; Kozin, Scott H.

doi:10.2106/jbjs.i.00079

Cited by 19 publications

(14 citation statements)

References 41 publications

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“…As a consequence, despite modified developmental mechanisms, tridactyl theropods share the same manual identities I, II and III as the five‐digited Herrerasaurus (Larsson & Wagner, ). Developmentally, the reduced activity of Shh in the early limb bud leads to a loss of posterior structures first (Towers et al ., ; Yang & Kozin, ). As posterior pathways are more constrained than anterior pathways, when the conserved Shh signalling is terminated, it is easier to suppress the growth and differentiation of the last digit.…”

Section: Discussionmentioning

confidence: 99%

Limusaurus inextricabilis(Theropoda: Ceratosauria) gives a hand to evolutionary teratology: a complementary view on avian manual digits identities

Guinard¹

2015

Zool J Linn Soc

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It is widely accepted that birds are rooted within theropod dinosaurs. However, there is controversy between palaeontological and developmental data regarding manual digit identities of birds and their tetanuran ancestors (I, II and III vs. II, III and IV). To resolve this conflict, the principle of a frame‐shift has been considered. Identities of digits I–III would develop on condensations 2–4. Nevertheless, the discovery of the basal Ceratosauria Limusaurus inextricabilis has been used as a reference to define the digital identity of Tetanurae as II–IV. The new concept of evolutionary teratology states that certain anatomical structures identified in evolutionary lineages are viable developmental anomalies (‘adaptive’ or not), becoming part of the considered groups. The features of Limusaurus' forelimb match teratological characterization. This diagnosis, associated with the variations previously identified in derived Ceratosauria taxa (Carnotaurinae), underline an anatomical and developmental independence (regarding evolutionary conserved mechanisms) compared with Tetanurae and therefore birds. Consequently, Limusaurus should not be used as a reference concerning the identity of avian manuals digits. Evolutionary teratology supports identities I, II and III of the tetanuran manus via a frame‐shift that did not occur in the Ceratosauria lineage. © 2016 The Linnean Society of London

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Section: Discussionmentioning

confidence: 99%

Limusaurus inextricabilis(Theropoda: Ceratosauria) gives a hand to evolutionary teratology: a complementary view on avian manual digits identities

Guinard¹

2015

Zool J Linn Soc

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“…The complexity of interactions and arrangement of Hox gene expression regions are a credible source to evolutionary micromelic variations of Carnotaurinae. It should be noted that the changes affecting regulators and factors may lead to decreases in the growth of limbs and loss of digital elements, which include, among others, Shh signaling, retinoids or the fibroblast growth factors (Niederreither et al., ; Moeller et al., ; Sagai et al., ; Yang and Kozin, ).…”

Section: Macroevolutionary and Paleontological Work As Case Studiesmentioning

confidence: 99%

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

2016

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Since the rise of evo-devo (evolutionary developmental biology) in the 1980s, few authors have attempted to combine the increasing knowledge obtained from the study of model organisms and human medicine with data from comparative anatomy and evolutionary biology in order to investigate the links between development, pathology, and macroevolution. Fortunately, this situation is slowly changing, with a renewed interest in evolutionary developmental pathology (evo-devo-path) in the past decades, as evidenced by the idea to publish this special, and very timely, issue on "Developmental Evolution in Biomedical Research." As all of us have recently been involved, independently, in works related in some way or another with evolution and developmental anomalies, we decided to join our different perspectives and backgrounds in the present contribution for this special issue. Specifically, we provide a brief historical account on the study of the links between evolution, development, and pathologies, followed by a review of the recent work done by each of us, and then by a general discussion on the broader developmental and macroevolutionary implications of our studies and works recently done by other authors. Our primary aims are to highlight the strength of studying developmental anomalies within an evolutionary framework to understand morphological diversity and disease by connecting the recent work done by us and others with the research done and broader ideas proposed by authors such as Étienne Geoffroy Saint-Hilaire, Waddington, Goldschmidt, Gould, and Per Alberch, among many others to pave the way for further and much needed work regarding abnormal development and macroevolution.

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“…The limb buds are observed on day 26 in the upper limb and day 28 in the lower limb [4,5]. The limb derives from the mesenchymal cells of the lateral mesodermal plate and develops along three major axes depending on the efficiency of the various signal centers [6]. Apical ectodermal ridge (AER), one of these centers, controls the limb growth along the proximaldistal axis via fibroblast growth factors (Fgfs).…”

Section: Introductionmentioning

confidence: 99%

“…Finally, the third signal center, non-AER limb ectoderm, regulates the limb growth along the dorsalventral axis. At this stage, Wnt7A, which is expressed by the dorsal limb ectoderm and is a member of the Wnt family, plays an important role [6][7][8][9]. As well as the signaling centers, various transcription factors are also involved in the formation of the limb.…”

Section: Introductionmentioning

confidence: 99%

A novel missense mutation that may be associated with the polydactyly in the HOXD13 gene: Q241H

Güçlü¹

2020

Ann Clin Anal Med

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A missense mutation in HOXD13: Q241HA novel missense mutation that may be associated with the polydactyly in the HOXD13 gene: Q241H Abstract Aim: HOX gene cluster which is termed as architectural genes and affects the expression of certain genes on DNA are effective in the development of limb.Therefore, mutations are observed in HOX genes, particularly HOXD13, lead to various congenital limb malformations. In this context, it was aimed to determine the expression level of HOXD13 gene and screening of HOXD13 mutations in patients with congenital lower/upper limb malformations who applied to Clinic of Plastic Reconstructive and Aesthetic Surgery of Meram Faculty of Medicine Hospital in this study. Material and Method: The case group of the study was composed of 20 unrelated patients with congenital lower/upper limb malformations and the control group was composed of 20 healthy individuals. Mutation analysis was performed using NGS and Sanger sequencing methods. The expression level of the HOXD13 gene was determined by the qPCR. Results:According to the qPCR results, in the case group, a 3.43 fold decrease was observed in the expression of HOXD13 gene when compared with the control group.However, this result was not statistically significant. According to NGS and Sanger sequencing results, a 723G> T variation that could lead to amino acid changes (Q241H) and could be defined as a missense mutation was detected in a patient. Discussion: 723G> T variation observed in a patient with a polydactyly anomaly was found in the patient's mother. However, more detailed studies are needed to assess this variation, which are not found in the literature, as a missense mutation in HOXD13 associated with polydactyly.

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Cell Signaling Regulation of Vertebrate Limb Growth and Patterning

Cited by 19 publications

References 41 publications

Limusaurus inextricabilis(Theropoda: Ceratosauria) gives a hand to evolutionary teratology: a complementary view on avian manual digits identities

Limusaurus inextricabilis(Theropoda: Ceratosauria) gives a hand to evolutionary teratology: a complementary view on avian manual digits identities

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

A novel missense mutation that may be associated with the polydactyly in the HOXD13 gene: Q241H

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