Genetics Chapter 4 Learning Objectives

Be able to describe the inheritance patterns and molecular explanations for the patterns listed in
Table 4.1
Simple mendelian: inheritance pattern in which alleles follow a strict dominant/recessive
relationship
(molecular): 5! of the protein" produced b# a sin$le cop# of the dominant allele in the
hetero%#$ote" is sufficient to produce the dominant trait
&nderstand the two molecular explanations wh# most recessive traits are due to loss'of'function
mutations (see (i$ure 4.)).
'protein for $ene mi$ht not be expressed at all or mi$ht not function
1. 5! of the normal protein is not enou$h to accomplish the protein*s cellular function (see
fi$ure 4.))
). The hetero%#$ote ma# actuall# produce more than 5 percent of the functional protein due to
$ene upre$ulation to compensate for loss of function in the defective allele
+now the inheritance pattern and molecular explanation for incomplete dominance (see (i$ure
4.,). -lso appreciate that the perception of dominance versus incomplete dominance ma#
depend on the level of examination (see (i$ure 4.4).
Incomplete dominance: inheritance pattern in which there*s a normal functional allele and a
nonfunctional allele" and the hetero%#$ote exhibits a phenot#pe that is intermediate between
correspondin$ homo%#$otes
(ie red flower. white flower /w'loss of function (mutant allele) that" /r crossed with /w
produces pin0 flowers
'whether a trait is dominant or incompletel# dominant ma# depend on how closel# the trait is
examined" such as if we loo0 at the wrin0led pea shape we mi$ht see incomplete dominance in
the supposedl# round hetero%#$ous pea
Be able to describe the phenomena of incomplete penetrance and expressivit# (see (i$ure 4.5).
Incomplete penentrance: occurs in cases where a dominant allele does not influence the
outcome of a trait in a hetero%#$ous individual
'ex: usuall# a sin$le cop# of a pol#dact#l allele is enou$h to cause pol#dat#ll#" the
individual doesn*t actuall# show the trait. But" the# mi$ht pass it on to their offsprin$
'this shows that the allele doesn*t alwa#s 1penetrate2 into the phenot#pe of the individual
Expressivity: the de$ree to which a trait is expressed. (or example" a person with several di$its
has hi$h expressivit# of pol#dact#l#" which a person with onl# one has low expressivit#
'ran$e of phenot#pes thou$ht to be due to influence of environment and other $enes
&nderstand that traits are determined b# an interpla# between $ene expression and
environmental factors (see (i$ure 4.3).
Be able to describe the inheritance pattern and the three molecular explanations for
overdominance (see (i$ures 4.4" 4.5).
&nderstand that most $enes come in multiple alleles (see (i$ure 4.6).
There ma# be three or more alleles for a $iven $ene* it*s 7ust that $enes present in a sin$le
cop#/haploid $enome" onl# up to ) alleles can be found in a diploid individual
-lle 89- produces anti$en -" and blood $roup is determined b# the t#pe of anti$en present on the
surface of red blood cells. 8n allele 8" neither anti$en - or B is produced
Be able to describe the inheritance pattern and molecular explanation for codominance (see
(i$ure 4.11).
'example is -B blood: individual expresses both phenot#pes in a hetero%#$ote
Be able to describe the inheritance pattern and molecular explanation for :'lin0ed recessive
inheritance (see (i$ures 4.1)" 4.1,).
;ometimes" males and females differ in the composition of what 0inds of $enes are found
on a particular sex chromosome
<ale: affected
(emale: unaffected
=ffsprin$: none affected" but females are carriers
<ale: unaffected
(emale: affected
=ffsprin$: all male offsprin$ affected" all female offsprin$ are carriers
Be able to describe the inheritance pattern and molecular explanations for sex'influenced and
sex'limited inheritance (see (i$ures 4.13" 4.14).
Sexin!l"enced inheritance: inheritance where an allele is dominant in one sex but recessive in
the opposite sex
'usuall# caused b# an autosomal $ene. oftentimes related to the production of hormones or
overexpression of a $ene
&nderstand the examples of $ene interactions described in Table 4.,.
Gene interaction: when two or more different $enes influence the outcome of a sin$le trait
'this includes morpholo$ical traits such as hei$ht and wei$ht" combined with environmental
influences
Epistasis: inheritance pattern in which alleles of one $ene mas0 the phenot#pic effects of the
alleles of a different $ene (cc mas0s >>). ?ou can ususall# see this in the () $eneration
'molecular reason for epistasis: two or more different proteins participate in a common cellular
function such as an en%#matic pathwa# and both are needed for the phenot#pe to show up
Complementation: inheritance pattern in which two different parents that express similar
recessive phenot#pes produce offsprin$ with wild't#pe phenot#pes
'shows that two mutant lines had same phenot#pe caused b# mutations in different $enes
#odi!ying genes: inheritance pattern in which an allele of one $ene modifies the phenot#pic
outcome of the alleles of a different $ene
Gene red"ndancy: inheritance pattern in which loss of function in a sin$le $ene has no
phenot#pic effect" but loss of function of two $enes has an effect (therefore $enes are
functionall# redundant)
'ma# be due to $ene duplication" in which two copies of the same $ene are called paralo$s
Intergenic s"ppressors: inheritance pattern in which the phenot#pic effects of one mutation are
reversed b# a suppressor mutation in another $ene
Be able to describe the patterns of inheritance that #ield epistasis and complementation.
&nderstand their molecular explanations (see (i$ures 4.16" 4.)" 4.)1). @ote: the molecular
explanation for chic0en comb morpholo$# is not understood.
Be able to describe the inheritance pattern and molecular explanation for a $ene interaction that
involves $ene redundanc# (see (i$ure 4.)4).
$ominant #"tants %see slide&