Question

For each word define the word, describe molecular structure/composition/character, activity/catalysis, location within cells and how it contributes to cell or organisms functioning.

a. Human SHOX gene

b. Human SRY gene

c. Genome

Answer 1

a)Human SHOX gene is Short stature homeobox (SHOX) gene. It is a homeobox gene. The gene is composed of 6 different exons . This gene is located in the pseudoautosomal region (PAR1) of the X chromosome and Y chromosome. It helps in regulation of development. It is associated with short stature in humans if mutated or present in only one copy.

b)SRY gene is Sex determining region Y. It is also called Testis-determining factor (TDF). It is a DNA-binding protein and is responsible for the initiation of male sex determination in humans. The SRY gene encodes protein called the sex-determining region Y protein which is involved in male sexual development.

SRY protein binds to SF1 protein and regulate the transcription factor SOX9. It causes development of primary sex cords which form seminiferous tubules

Cytogenetic Location of SRY gene: Yp11.2, which is the short (p) arm of the Y chromosome at position 11.2

c) Genome is the total genetic material present in the organism. It carries the information needed for the cell survival, reproduction and growth. It is present in the nucleus and mitochondria in animals. It plants it is present in the nucleus and choloroplast.

It is inherited to next generation transmitting the information to the progeny.