Globin+++gene+structure

Globin+++gene+structure - beta - like tetramer Embryo zeta...

Info iconThis preview shows pages 1–5. Sign up to view the full content.

View Full Document Right Arrow Icon
Globin and gene structure 10/23/06 J.L. Marsh 137B - 1 - Handout Globins & gene structure 1.Anatomy of a gene 1 2 3 4 5 6 7 8 ± AUG TAA TAG TGA [GT AG] cap(ppp7CH3Gp) AATAAA AAAAAAn(1-200) AAAAn TATA Termination? ±² 2 ³ ´ µ´ ±² 1 ¶ ² human globin gene cluster (to scale) 10 20 30 40 50 60 70 80 G · 2 · 1 ±¸ 1 ¸ 2 ¸ 1 beta cluster = chr 11 alpha cluster = chr 16 Globin switching in Development Different globins appear at different developmental stages 3 6 ± ² chain (adult) ³ chain (fetal) ´ chain (embryonic) µ chain(embyonic) chain zeta delta birth 3mo 6mo 50% { embryonic HbP HbGI HbGII Fetal HbF adult HbA HbA2 In yolk sac In devel'ing liver spleen marrow In marrow Site of synthesis
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Globin and gene structure 10/23/06 J.L. Marsh 137B - 2 - Hemoglobin Switching in Development Hemoglobins are tetrameric proteins w/ heme group ± A ² G ² ³ ´ µ embryo 1 2 fetus HbF (HbA) ~20% adult HbA adult HbA2 alpha - like
Background image of page 2
Background image of page 3

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Background image of page 4
Background image of page 5
This is the end of the preview. Sign up to access the rest of the document.

Unformatted text preview: beta - like tetramer Embryo zeta epsilon Z 2 E 2 ; some E 4 Fetus alpha gamma A&G A 2 G 2 = Hb F some B 20-30% A 2 B 2 = Hb A Adult alpha beta A 2 B 2 = Hb A some delta 2-3% A 2 D 2 = Hb A 2 Sites of globin synthesis during development 3 6 birth 3mo 6mo Liver marrow spleen yolk TATA Termination? 37 Beta globin gene mutations 6 frameshifts ins or del 5 nonsense (stop codons) 6 junction muts 12 others affect processing 1 in poly A addition signal 6 in and around TATA give 20% RNA Globin and gene structure 10/23/06 J.L. Marsh 137B - 3 - G A 1 30 40 50 60 70 80 150 HPFH-1 US BLACKS HPFH-2 BLACKS GHANA HPFH-3 INDIAN CHINESE SICILIAN SPANISH HPHF THAL Globin and gene structure 10/23/06 J.L. Marsh 137B - 4 - Globin and gene structure 10/23/06 J.L. Marsh 137B - 5 -...
View Full Document

Page1 / 5

Globin+++gene+structure - beta - like tetramer Embryo zeta...

This preview shows document pages 1 - 5. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online