Talk:ANAT2341 Lab 1 - Fertilization

From Embryology

Archive: 2015 page

Sex Determination

Mammalian sex determination is regulated by chromosomes.

  • Females have two X chromosomes. (XX)
  • Males have a single X and a small Y. (XY)
  • The X and Y chromosome are morphologically and functionally different from each other.
  • Evolutionary studies have shown that the Y was once the homologous pair for X.
  • It is only in the last 5 years that we have some idea about how these two types of chromosomes may be regulated and genes of importance located upon them.

X chromosome

Human idiogram-chromosome X.jpg

In females - the main scientific problem was understanding gene dosage, only one copy of X chromosome is needed to be genetically active the other copy is inactivated (More? X Inactivation.

About the X Chromosome

  • 155 million base pairs
  • In contrast to the Y chromosome, the X chromosome contains about 5% of the haploid genome and encodes house-keeping and specialized functions.
  • Genes such as Wnt-4 and DAX-1 necessary for initiation of female pathway ovary development
  • An early discovery (1961) was that in order to have correct levels of X chromosome gene/protein expression (gene dosage), females must "inactivate" a single copy of the X chromosome in each and every cell. The initiator of the X inactivation process was discovered (1991) to be regulated by a region on the inactivating X chromosome encoding an X inactive specific transcript (XIST), that acts as RNA and does not encode a protein.
  • The genetic content of the X chromosome has been strongly conserved between species because these genes have become adapted to working as a single dose - Ohno's law
  • X inactivation occurs randomly throughout the embryo, generating a mosaic of maternal and paternally derived X chromosome activity in all tissues and organs. This can be seen in the fur colour of tortoiseshell cats.

Y chromosome

Human idiogram-chromosome Y.jpg

In males - the main scientific problem was understanding what on the Y chromosome determined "maleness", and how this is done.

About the Y Chromosome

  • 59 million base pairs, hypervariable in length, mostly non-functional repeats
  • Current known protein-coding genes = 48 including SRY
  • SRY encodes a 204 amino acid protein that is a member of the HMG (High mobility group) box class of DNA-binding proteins. Transcription factors bind to specific sites of DNA and regulates the transcription (expression) of other genes.