B.

Modes of Gene Expression & Interaction

1. Similar genes specifying a trait
a. Allelic interactions
1) Complete Dominance
AA and Aa the same phenotype
Aa - 50% of the functional protein
- adequate to provide normal phenotype
dominant allele protein with normal
function
mutant allele defective protein
- decreased/lost functional activity
2) Co-dominance
- each allele has equal contribution
A protein A; B protein B
ex. ABO blood groups in man

(insert) HUMAN LDH

LDH1: H H H H - abundant in heart
LDH2: H H H M - abundant in heart, brain
LDH3: H H M M - abundant in brain, kidneys,
lung
LDH4: H M M M - abundant in liver, skeletal
muscle, kidney
LDH5: M M M M - abundant in liver, skeletal
muscle, ileum

3) Incomplete Dominance
heterozygote intermediate phenotype
gene R red
pink (Rr)
gene r white
4) Overdominance
- heterozygote is superior than homozygote
A1 enzyme - functions at low temperature
A2 enzyme - functions at high temperature
A1 A2 homodimer
- could have better functional activity
- can function under wide range of condition
b. Isoloci Interactions
1) Genetic mechanism of isozyme formation
Multi-locus polymeric system
- enzymes are polymeric,non-identical subunits
Ex. LDH - tetrameric (A and B subunits)
LDH1 (B4) - BB, BB
LDH2 (A1B3) - BA, BB
LDH3 (A2B2)- AA, BB
LDH4 (A3B1)- AA, AB
LDH5 (A4) - AA, AA
2) Classification of isoloci
a) Clustered Isoloci
- gene duplication
- closely linked genes
b) Dispersed Isoloci
- translocation
- distributed in the genome

RMAlcabedos 1st sem 16-17

2. Dissimilar genes specifying a trait

a. Genes of the immune system
- gene families
- genes that show:
a. multiplicity
b. close linkage
c. sequence homology
d. related or overlapping functions
ex. immunoglobulin gene

chrom. 14 H chain genes

chrom. 2 kappa () L genes

chrom. 22 lambda() L genes

as antibody-forming B cells mature
rearrangement of genes
mature B cells encode, synthesize, secrete
only one specific type of antibody
one type of L ( or ) and one type of H
chains
during maturation in a B cell, one of the 300
L-V regions randomly joins to one of the 6 J
genes functional L chain gene (newly
created L-V-J) = exon in a gene that includes
the C region transcribed, translated to
form or L chain
Diversity in L chain - result of combining
any of the 300 V genes with any of the 6 J
genes = 1800 different genes
recombination events in genes = 1800
Total = 3600

Diversity in H chain
- 300 V genes , 10-50 D genes ,4 J genes
recombination joins a V region with one of
the D sequences and one of the J sequences
V-D-J segment can be joined to any one of the
C segments (CM, CD, CG, CE, CA)
formation of a gene for an IgM, IgD, IgG, IgE,
and IgA antibody
= 25 D x 300V x 4J = 30000
Potential for overall antibody diversity
= combination of all H chain genes with all L
chain genes
possible H chains generated = 30000
possible L chains = 3600
108 Million possible antibody genes from a
few hundred coding sequences
ILLUSTRATIONS:

RMAlcabedos 1st sem 16-17