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Chromosome 8. By: Taylor Thorne. General Info. 146 million base pairs Chromosome 8 contains 1247 genes – 2 genes not placed About 4.5% to 5% of the chromosome is sequenced Size: One of the largest genes … 9 th largest Chromosomes X,1,2,3,4,5,6, and 7 are larger then 8. EYA1.
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Chromosome 8 By: Taylor Thorne
General Info • 146 million base pairs • Chromosome 8 contains 1247 genes– 2 genes not placed • About 4.5% to 5% of the chromosome is sequenced • Size: One of the largest genes… 9th largest • Chromosomes X,1,2,3,4,5,6, and 7 are larger then 8
EYA1 • Name: Eyes absent homolog 1 (drosophila) • Location:8q13.3 • Mutations: • Branchiootorenal syndrome • disrupts the development of tissues in the neck and causes malformations of the ears and kidneys • Anterior segment anomalies and cataract • Eye problems • Otofaciocervical syndrome • Abnormalities in the ears, neck, and face
WRN • Name: Werner Syndrome RecQ helicase-like • Location: 8p12 • Mutations: • Werner syndrome • Accelerated or premature aging • Located at 8p12-p11.2
St18 • Name: suppression of tumorigenicity 18 • Location: 8q11.23 • Mutations: • Breast carcinoma • Zinc finger protien
HR • Name: Hairless homolog (mouse) • Location: 8p21.2 • Mutations: • Alopecia universalis • Condition that causes round patches of hair loss • Atrichia with papular lesions • A rare syndrome characterized by the loss of hair soon after birth and the eventual development of a popular rash that covers all areas of skin. • Hypotrichosis, Marie Unna type • Hair grows in when born but begins to fall out by adolesence
Linked Genes • C8orf74 is linked to FAM86B1 • chromosome 8 open reading frame 74 linked to family with sequence similarity 86, member B1 (both linked to 8p23.1) • RPLP1P9 is linked to GRS • ribosomal protein linked to glutathione reductase
Linked genes • Nicotinic Receptor gene • Due to introgressed chromosome 8 • Perfect Pitch • In those if European ancestry • Cancer • Linked on NRG1 (neuregulin-1) • Especially breast cancer Introgressed: the movement of a gene from one species into the gene pool of another by backcrossing an interspecific hybrid with one of its parents
Linked Genes • Also linked to • Schizophrenia • Cataracts • Hair loss