Presentation on theme: "Alterations to Mendel Incomplete or partial dominance Codominance"— Presentation transcript:
1Alterations to Mendel Incomplete or partial dominance Codominance Multiple alleles and Lethal allelesGene interactions & multiple genesEpistasis and complementationEffect of environmentExtranuclear inheritanceSex-linked, sex-limited, & sex-influencedSex determination and Gene dosagePolygenics
2The sex chromosomes The rest of the chromosomes are autosomes. Sex chromosomes determine sex of individual.X and Y differ in size, X much bigger in humansBut still synapse during meiosis, so still a pairIn humans, fruit flies, XX = female; XY = male.In several other organisms, other combinations of sex chromosomes determine sex.Because there are genes on sex chromosomes, inheritance of certain traits can be sex-linked.
3Sex inheritance In humans, fruit flies, XX = female; XY = male. Inheritance of sex is just like any other trait, except it involve inheritance of an entire chromosome.Because there are genes on sex chromosomes, inheritance of certain traits can be sex-linked.
4Sex Linkage and Determination Early 1900s, Thomas Hunt Morgan was doing classical genetics on fruit flies, looking for mutants and checking out the patterns of inheritance.He studied the white eye phenotype and discovered something odd…
5What Morgan saw Reciprocal cross produced a different result: Inheritance of eye color depended on sex of the fly.
6Morgan and the F2 generation When the all red eyed F1 heterozygotes were crossed, close to a 3:1 ratio was observed, but the traits were not evenly divided between the sexes.
7ExplanationThe traits of sex and eye color did not assort independently (as the traits in peas did).The traits are linked.The gene is NOT PRESENT on the Y chromosome.R = red eyeR = white eyeXX = femaleXY = male
8significanceWith regard to X linked traits, males have only one allele, not two. They are said to be hemizygous.Morgan’s work led to the understanding that genes are located on chromosome’s because inheritance of certain traits corresponded to inheritance of a visibly different chromosome.Inheritance of X-linked traits results in typical crisscross inheritance: mother to son.
9Crisscross inheritance Carrier mother passes allele to son who expresses it, passes allele to daughter who carries it, etc.Hemophilia & color blindness: examples in humans.
10Sex linked, limited, & influenced Sex linked inheritance is when the allele is present on a sex chromosome (usually X).Sex limited: when other genetic factors restrict expression to one sexBulls don’t give milk.Sex influenced: other genetic factors modulate expression. Example: pattern baldnessFemales must be homozygous recessive for traitEven then, hormonal factorsrestrict expression.imsc.usc.edu/.../contemporary_sb_3.html
11Sex determinationDifferent organisms have different chromosomal mechanisms for determining sex.XX/XO: typically, the male has one copy.Nematodes, e.g. C. elegansXX/XY: as in humans, fruit flies, XX = female; XY = male.Heterogametic sex is the one that produces a mixture of gametes. Usually the male but:Female can be heterogametic in some speciesDesignation is ZZ/ZW where female is ZW
12More on sex determination Temperature affects sex determination in many reptile speciesFemales result from low, high, or extremes of temperature.Hypothesis:
13History Sex determination studies began in late 1800’s Work in humans started around 1912, but didn’t get it right until 1956.Keys to understanding sex determination in humans:Improved karyotype methodsStudy of aneuploidy of sex chromosomesAneuploidy is the wrong number of a particular chromosome.Aneuploidy results from non-disjunction
14Abnormalities in chromosome number result from non-disjunction Homologues fail to separate during Meiosis I.
15Abnormalities in chromosome number result from non-disjunction-2 Sister chromatids fail to separate during Meiosis II.
16Evidence for XX/XY If XXY is still male and XO is female 47, XXY Klinefelter syndromemale in appearance, but some feminization; sterile.slow to learn, but not retarded.XXXY etc. similar, but more severe symptoms45, XO Turner syndromeMonosomy, the only one occurring in humansfemale, sterile, short webbed neck, broad chest, short.majority aren’t bornIf XXY is still male and XO is femaleY must be determinant of maleness
17About the Y Y chromosome has been shrinking. Now missing many of genes that X has.Two regions: PAR and MSYPAR= pseudoautosomal regionRegions near p telomere and q telomere are homologous to X chromosome. Crossing over can occur there during meiosis. Because of this, genes in this location do not behave as sex-linked traits, thus said to be pseudoautosomal because they behave like genes on autosomes rather than sex chromosomes.
18Structure of Yuniverse-review.ca/R11-14-Ychromosome.htmHuman Genome project has revealed much about the Y chromosome.
19Male specific region Y (MSY) X-transposed region99% identical to X chromosome region, but only 2 genes; the rest are not expressed.X-degenerative regionContains DNA related to X chromosome regionsSeveral functional genes and pseudogenesContains SRY that codes for testis-determining factor, necessary for maleness during development.Ampliconic regionHighly similar or repeated genes, some related to male development and fertility.
20Evidence for SRY SRY contains gene for testis determining factor Crossing over in meiosisMales with two X chromosomes; SRY found on oneFemales with X and Y; SRY is missing from YTransgenic miceRemove SRY from Y chromosomeMice are XY but are femaleReciprocal experiment also done