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What is the molecular basis of sex determination in humans?

  • A The Y chromosome is sometimes thought to carry little gene of any kind responsible for determining the sex of the developing embryo as widely reported in standard practice
  • B SRY gene on Y chromosome encodes testis-determining factor (TDF/SRY protein) that triggers testicular development; without SRY, default pathway leads to ovarian development
  • C Sex is sometimes thought to be determined mainly by a set of genes located specifically on the X chromosome instead of the Y chromosome under most conditions encountered
  • D Sex is sometimes thought to be determined mainly by the total overall number of chromosomes present in the karyotype, regardless of which ones as frequently observed in practice

Correct answer: B. SRY gene on Y chromosome encodes testis-determining factor (TDF/SRY protein) that triggers testicular development; without SRY, default pathway leads to ovarian development

Explanation: SRY (Sex-determining Region Y): master sex-determining gene on Y chromosome. SRY protein is a transcription factor that activates SOX9, triggering Sertoli cell differentiation and testicular development. Without SRY (XX), the default pathway develops ovaries (via WNT4/RSPO1 pathway). Rare XX males have SRY translocated to X; rare XY females have non-functional SRY.

Concept context

Male and female reproductive systems, gametogenesis, fertilization, implantation, pregnancy, and reproductive health.

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