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Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

ABSTRACT: In the vertebrate limb over 40 muscles are arranged in a precise pattern of attachment via muscle connective tissue and tendon to bone and provide an extensive range of motion. How the development of somite-derived muscle is coordinated with the development of lateral plate-derived muscle connective tissue, tendon and bone to assemble a functional limb musculoskeletal system is a long-standing question. Mutations in the T-box transcription factor, TBX3, have previously been identified as the genetic cause of ulnar-mammary syndrome (UMS), characterized by distinctive defects in posterior forelimb bones. Using conditional mutagenesis in mice, we now show that TBX3 has a broader role in limb musculoskeletal development. TBX3 is not only required for development of posterior forelimb bones (ulna and digits 4 and 5), but also for a subset of posterior muscles (lateral triceps and brachialis) and their bone eminence attachment sites. TBX3 specification of origin and insertion sites appears to be tightly linked with whether these particular muscles develop and may represent a newly discovered mechanism for specification of anatomical muscles. Re-examination of an individual with UMS reveals similar previously unrecognized muscle and bone eminence defects and indicates a conserved role for TBX3 in regulating musculoskeletal development.

SUBMITTER: Colasanto MP

PROVIDER: S-EPMC5117227 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature

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Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

Colasanto Mary P MP Eyal Shai S Mohassel Payam P Bamshad Michael M Bonnemann Carsten G CG Zelzer Elazar E Moon Anne M AM Kardon Gabrielle G

Disease models & mechanisms 20160804 11

In the vertebrate limb over 40 muscles are arranged in a precise pattern of attachment via muscle connective tissue and tendon to bone and provide an extensive range of motion. How the development of somite-derived muscle is coordinated with the development of lateral plate-derived muscle connective tissue, tendon and bone to assemble a functional limb musculoskeletal system is a long-standing question. Mutations in the T-box transcription factor, TBX3, have previously been identified as the gen ...[more]

PMID: 27491074

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Project description:BackgroundThe so-called ventral organs are amongst the most enigmatic structures in Onychophora (velvet worms). They were described as segmental, ectodermal thickenings in the onychophoran embryo, but the same term has also been applied to mid-ventral, cuticular structures in adults, although the relationship between the embryonic and adult ventral organs is controversial. In the embryo, these structures have been regarded as anlagen of segmental ganglia, but recent studies suggest that they are not associated with neural development. Hence, their function remains obscure. Moreover, their relationship to the anteriorly located preventral organs, described from several onychophoran species, is also unclear. To clarify these issues, we studied the anatomy and development of the ventral and preventral organs in several species of Onychophora.ResultsOur anatomical data, based on histology, and light, confocal and scanning electron microscopy in five species of Peripatidae and three species of Peripatopsidae, revealed that the ventral and preventral organs are present in all species studied. These structures are covered externally with cuticle that forms an internal, longitudinal, apodeme-like ridge. Moreover, phalloidin-rhodamine labelling for f-actin revealed that the anterior and posterior limb depressor muscles in each trunk and the slime papilla segment attach to the preventral and ventral organs, respectively. During embryonic development, the ventral and preventral organs arise as large segmental, paired ectodermal thickenings that decrease in size and are subdivided into the smaller, anterior anlagen of the preventral organs and the larger, posterior anlagen of the ventral organs, both of which persist as paired, medially-fused structures in adults. Our expression data of the genes Delta and Notch from embryos of Euperipatoides rowelli revealed that these genes are expressed in two, paired domains in each body segment, corresponding in number, position and size with the anlagen of the ventral and preventral organs.ConclusionsOur findings suggest that the ventral and preventral organs are a common feature of onychophorans that serve as attachment sites for segmental limb depressor muscles. The origin of these structures can be traced back in the embryo as latero-ventral segmental, ectodermal thickenings, previously suggested to be associated with the development of the nervous system.

Project description:Background Ulnar impaction syndrome is a condition in which the ulna impacts on the ulnar carpus. This most commonly occurs when the ulna is longer than the radius, but it can also occur in wrists with ulnar neutral and ulnar negative variance. Materials and Methods In this paper we outline our surgical technique for ulnar shortening osteotomy. A previously published retrospective case series of 28 patients treated at our center is presented. Fifty consecutive patients who underwent ulnar shortening osteotomy (USO) for ulnar impaction syndrome were approached for study, and 28 consented to review. Mean preoperative ulnar variance was +2.3 mm, and mean postoperative ulnar variance was -0.8 mm. Mean follow-up time was 21.2 months (8 to 41 months) and ten of 28 were receiving workers' compensation. Mean preoperative pain score (visual analog scale; VAS) was 7.9. Univariate analysis was performed to assess clinical and demographic data. In addition, subgroup analysis of workers' compensation patients and smokers was performed. Description of Technique A longitudinal incision over the subcutaneous border of the ulna is used to expose the ulna between the distal and middle third of the ulna from the ulna styloid. Preoperative posteroanterior (PA) X-rays are reviewed to determine the amount of shortening required, with a goal of creating -2 mm variance postoperatively. A 6-hole dynamic compression plate is predrilled distally prior to performing two oblique osteotomies separated by the desired shortening length. The fragments are reduced, controlling for rotation, and plated using compression. In some cases, a lag screw is employed across the oblique osteotomy site. Results Mean pain scores were significantly reduced postoperatively (VAS 7.9 versus 3.1, P < 0.0001). The mean Disabilities of the Arm, Shoulder, and Hand (DASH) score was 37.2 postoperatively. Flexion, extension, and supination were reduced compared with the contralateral unaffected extremity (84.6%, 85.3%, and 86.9% of normal). Patients receiving workers' compensation and smokers had significantly more pain postoperatively (VAS 5.2 vs. 2.0, P = 0.0002 and VAS 4.4 vs 2.4, P < 0.05, respectively). Eleven of 28 patients required hardware removal for plate irritation, and five of 28 patients had a nonunion. Conclusion We present our surgical technique for ulnar shortening osteotomy. Pain was significantly improved in our population; however, patients receiving workers' compensation and smokers had less improvement in pain and higher disability scores.

Dataset Information

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

Publications

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

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