23 chromosomes in 23 chapters By Mr. Swart’s Biology Students The Human Genome 23 chromosomes in 23 chapters By Mr. Swart’s Biology Students

A Genome is like a Book 23 Chapters: 23 types of CHROMOSOMES Stories within the Chapters: GENES Key Events: EXONS Words: CODONS (all composed of 3 letters) Letters: DNA BASES (A, T, C or G) Typos: MUTATIONS Details of unknown significance: Introns Can be photocopied: REPLICATION Can read itself: TRANSLATION

Chromosome Assignments – P1 Student 1 2 3 4 5 6 7 8 9 10 11 12 Chromosome Student 13 14 15 16 17 18 19 20 21 22 X Y

Chromosome Assignments – P2 Student 1 2 3 4 5 6 7 8 9 10 11 12 Chromosome Student 13 14 15 16 17 18 19 20 21 22 X Y

Chromosome Assignments – P3 Student 1 2 3 4 5 6 7 8 9 10 11 12 Chromosome Student 13 14 15 16 17 18 19 20 21 22 X Y

Chromosome Assignments – P4 Student 1 2 3 4 5 6 7 8 9 10 11 12 Chromosome Student 13 14 15 16 17 18 19 20 21 22 X Y

Chromosome Assignments – P5 Student 1 2 3 4 5 6 7 8 9 10 11 12 Chromosome Student 13 14 15 16 17 18 19 20 21 22 X Y

What does this protein make up or do? Chapter 1: Chromosome 1 DNA Sequence Chromosome 1228 bp Name of Protein 1 Name of Gene myocilin GLC1A transcription Amino acid sequence mRNA 490 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? may cause increased pressure in the eye by obstructing the aqueous outflow Condition/Disease Glaucoma

Description of Glaucoma Symptoms and characteristics Glaucoma is an eye disease in which the fluid pressure inside the eyes slowly rises, leading to loss of vision and/or blindness. At first, there are no symptoms If glaucoma remains untreated, people may miss objects to the side and out of the corner of their eye, progressing to tunnel vision and blindness. Glaucoma is detected through a comprehensive eye exam. Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of Glaucoma (cont.) Who is affected? Anyone, but the following have a higher risk: African Americans over the age of 40 Everyone over the age of 60, especially Mexican Americans People with a family history of glaucoma Outlook or quality of life With early treatment, eyes may be protected from serious vision loss Without treatment, individuals develop tunnel vision (only straight-ahead vision) and, over time, no vision (blindness). Treatments include medicine, laser procedure and/or surgery. There is no cure for glaucoma; Vision that is lost cannot be restored. Researcher: Jane Sample

References NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/. National Eye Institute. Glaucoma: What you should know [online]. 2004. [cited July 14]. Available at URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp.

Paired Box Protein Pax-3 What does this protein make up or do? Chapter 2: Chromosome 2 DNA Sequence Chromosome 1038 bp Name of Protein Name of Gene 2 Paired Box Protein Pax-3 PAX3 transcription Amino acid sequence mRNA 479 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Involved in transcription activation Condition/Disease Waardenburg Syndrome

Description of Waardenburg Syndrome Symptoms and characteristics Wide bridge of the nose Differences in pigments such as 2 different colored eyes White eyelashes and chunk of hair (forelock) in front Premature graying of the hair Some form of cochlear deafness There are at least 4 types of this disorder

Description of Waardenburg Syndrome (cont.) Who is affected? Infants are born with this disorder Outlook or quality of life Depends on degree of hearing loss as there is great variation Half with the gene have no hearing loss 1 out of 5 have severe enough loss to require some aid to communicate Some are deaf in one ear and not the other Some are totally deaf Researcher: Joe Sample

References Boys Town National Research Hospital. Information on Hearing Loss: Genetics and Deafness—Waardenburg Syndrome [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.boystownhospital.org/parents/info/genetics/waardenburg.asp. NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/. NIDCD. Waardenburg Syndrome [online]. 1999. [cited 2004 July 14]. Available at URL: http://www.nidcd.nih.gov/health/hearing/waard.asp.

Chapter 23: Chromosome X X A Cell Nucleus 14082 bp dystrophin 3562 aa DNA Sequence Chromosome 14082 bp Name of Protein X Name of Gene dystrophin DMD transcription Amino acid sequence mRNA 3562 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Strengthens muscle cells Condition/Disease Duchenne Muscular Dystrophy

Description of Duchenne Muscular Dystropy Symptoms and characteristics Generalized weakness and muscle wasting, affecting trunk and limb muscles first Calves are often enlarged Disease progresses slowly but will affect all voluntary muscles Usually unable to walk around the age of 12 Early signs include delay in walking, frequent falling, and difficulty getting up from a sitting or lying position Personal story can be found on the CDC’s Web site (URL: http://www.cdc.gov/ncbddd/duchenne/egstory.htm)

Description of Duchenne Muscular Dystropy (cont.) Who is affected? Affects 1 in 3500 boys worldwide. Is usually diagnosed when a child is 3 to 6 years of age Outlook or quality of life Usually fatal in the teens or early 20s, often due to respiratory and heart problems There are not cures, only a few treatments to slow the deterioration of the muslces Adaptive technologies and assistance are needed to improve quality of life Researcher: Elizabeth Sample

References CDC. Duchenne/Becker Muscular Dystrophy [online]. 2004. [cited 2004 July 14]. Available at URL: http://www.cdc.gov/ncbddd/duchenne/default.htm. MDA. Duchenne Muscular Dystrophy [online]. 2004. [cited 2004 July 14]. Available at URL: http://www.mdausa.org/disease/dmd.cfm. NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/.