Skeletal pattern and proportion

The transcription factors that fix which bone forms where and how long one limb segment runs against the next, and what their loss does in people.

Hox groups 10, 11 and 13 each pattern one segment of a limb: the upper bone, the pair below it, the hand. The effect is dose — every mutant allele makes the radius and ulna worse, and with all four working copies of Hoxa11 and Hoxd11 gone they come out as one shapeless element with no growth plate at its ends. Hox10Hox11Hox13Hoxa11 and Hoxd11four copiestwo leftnone leftGroup to segmentDose, not codebefore growth startsshapeless, not short

Height is a sum of leg, spine and head. Which of those is long relative to the others is a different measurement from the total, and it has its own genetics (see What the genetics of height says).

In this article

  • HOX clusters and limb segments
  • The human HOX disorders
  • PAX1, PAX9 and the vertebral column
  • T-box genes
  • Endothelin and the branchial arches

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