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Related Concept Videos

Determination01:51

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During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In...
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The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
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The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
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A hair follicle or HF is a small part of the skin that produces the hair shaft. Paul Gerson Unna was the first to observe a bulge in the human hair follicle's outer root sheath (ORS). The bulge is present between the sebaceous gland and the arrector pili muscle and is the niche for hair follicle stem cells (HFSCs). The bulge is also a niche for melanocyte stem cells, and their loss results in graying of hair. The HFSCs express Sox9 and Lhx2, which help them maintain stemness and prevent...
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Cells migrating in response to external stimuli form lamellipodia, which are thin membrane protrusions supported by a mesh of linked, branched, or unbranched actin filaments. These actin filaments interact with myosin motor proteins, creating the dynamic actomyosin complex within the cytoskeleton. Contractility, or the ability to generate contractile stress, is inherent to the actomyosin complex. It helps cells detect the stiffness of the surrounding ECM and exert contractile force for...
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Related Experiment Video

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Application of Impermeable Barriers Combined with Candidate Factor Soaked Beads to Study Inductive Signals in the Chick
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Bhlha9 regulates apical ectodermal ridge formation during limb development.

Kensuke Kataoka1, Takahide Matsushima1, Yoshiaki Ito1

  • 1Department of Systems BioMedicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

Journal of Bone and Mineral Metabolism
|March 22, 2017
PubMed
Summary

The gene BHLHA9 is crucial for limb development, regulating apical ectodermal ridge formation. Its abnormal expression causes split hand/foot malformation (SHFM) and related disorders.

Keywords:
Bhlha9Split hand/foot malformationSplit hand/foot malformation combined with long-bone deficiency

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Area of Science:

  • Developmental Biology
  • Genetics
  • Medical Science

Background:

  • Split hand/foot malformation (SHFM) and SHFM with long-bone deficiency (SHFLD) are congenital limb dysgeneses.
  • While six loci/mutations are known, the causes for many SHFM/SHFLD patients remain unknown.
  • BHLHA9 was identified as a novel gene associated with SHFM/SHFLD.

Purpose of the Study:

  • To investigate the physiological function of BHLHA9 in limb development.
  • To understand the pathogenic mechanisms underlying SHFM/SHFLD related to BHLHA9.

Main Methods:

  • Generation of a Bhlha9-knockout mouse model.
  • Analysis of gene expression and phenotype in the limb bud of knockout mice.
  • In vitro analysis to determine TP63 regulation by BHLHA9.

Main Results:

  • Bhlha9-knockout mice exhibited syndactyly and poliosis.
  • Aberrant expression of apical ectodermal ridge (AER) formation genes, including Trp63, was observed.
  • BHLHA9 was found to regulate TP63 expression.

Conclusions:

  • Bhlha9 plays a critical role in AER formation during limb and finger development.
  • Bhlha9 regulates AER formation by controlling the expression of related genes.
  • Dysregulation of BHLHA9 contributes to SHFM and SHFLD through impaired AER formation and altered gene expression.