CHROMOSOMES and KARYOTYPES

 

 

Chromosomes of higher organisms (eukaryotes) contain DNA and protein.

 

One long DNA double helix is present per chromatid

 

DNA is highly organized in association with histones (protein)

 

¥ 5 histones are highly conserved from 1 species to another

           

¥ 4 histones (2 copies of each) make a ball

 

¥ 1 histone links adjacent  balls together

 

¥ 146 base pairs of DNA wrap around each ball (2 loops/ball)

 

¥ each ball is a nucleosome

 

 

Nucleosomes are coiled into solenoids (6 nucleosomes/solenoid)

 

 ¥ solenoids also coil, forming a fiber

¥ fibers coil to give a visible (microscopic) chromosome

 

Chromosomes can best be seen when they are highly condensed at metaphase

Stains such as Giemsa that bind to DNA make condensed chromosomes visible

Adding colchicine to actively dividing cells destroys spindle fibers and traps the chromosomes at metaphase


Individual chromosomes can be cut from a picture and aligned by pairs, as shown from the work of Dr. T. C Shu

 

 

 

 

By convention, the largest chromosome pair is #1, the next # 2 etc.

 

The resulting picture shows the karyotype (chromosome composition) of the individual.

 

 

Humans have 23 "pairs" of chromosomes; 22 pairs of autosomes and one pair (XX 0r XY) of sex chromosomes

 

Special techniques produce banding patterns that permit chromosomes of similar size and shape to be distinguished

 

 

 

 

Especially useful are fluorescent probes that identify individual chromosomes based on DNA hybridization (FISH or fluorescent in situ hybridization)

 

            Dyes that result in different colors help in karyotyping:

 

 Chromosome vary in relative length of the arms and position of the centromere;

¥ telocentric:  the centromere is at the end (telomere) of the chromosome

¥ metacentric:  the centromere is near the middle

 ¥ submetacentric: slightly off-center

 ¥ acrocentric: very off center

Centromeres provide the point of attachment (kinetochore) for pulling daughter chromosomes to opposite poles in mitosis and meiosis.

 

 

Telomeres are very special; they cannot replicate using DNA polymerase

. Telomeres:

¥ are short highly repeated sequences that protect the ends of chromosomes from exonucleases

¥ grow shorter with age in most cells

¥ are maintained by telomerase enzyme in germline cells, and in some cancer cells (required for "immortality")

                        -telomerase is a ribozyme, ie it has an RNA component

                        -the RNA overlaps the repeat and serves as a template to re-exetend

 

 

 

The number of chromosomes varies between species:

Humans

46 (23 pairs) per diploid cell

Dogs

78 (39 pairs)

Cats

38 (19 pairs)

Horses

64 (32 pairs)

Ducks

80

Alligator

32

Drosophila (fruitflies)

8

Horsetail

216

Sequoia

22

 

A genome is one complete set of chromosomes

 

"ploidy" refers to the number of sets of chromosomes per cell

 

            Gametes each contain one genome so are haploid

 

            Most body cells contain 2 sets so are diploid

 

The amount of DNA (or RNA in some viruses) per genome varies among species

 

Some viruses have only around a thousand bases, enough for 3 genes

 

Humans have over 3 billion base pairs per genome

 

Amphibians and some primitive plants have 10-100 times as much DNA as mammals.

 

Crickets have 10 times as much DNA/cell as Fruitflies

 

Yeast, a eukaryotic fungus, and E. coli, a bacterium, both have about 6,000 genes even though yeast has more DNA/genome

 

Much of the eukaryotic genome consists of highly repeated sequences that do not function as genes.