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    This document summarizes key concepts about chromosomes and sex determination from a lecture, including: 1. Sex chromosomes determine sex, with females having two X chromosomes and males having one X and one Y chromosome. 2. Morgan's experiments with fruit flies provided evidence that genes are located on chromosomes, showing the inheritance of eye color correlated with the X chromosome. 3. Non-disjunction or errors in chromosome segregation provide exceptions that supported the chromosome theory of heredity.

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    This document summarizes key concepts about chromosomes and sex determination from a lecture, including: 1. Sex chromosomes determine sex, with females having two X chromosomes and males having one X and one Y chromosome. 2. Morgan's experiments with fruit flies provided evidence that genes are located on chromosomes, showing the inheritance of eye color correlated with the X chromosome. 3. Non-disjunction or errors in chromosome segregation provide exceptions that supported the chromosome theory of heredity.

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    39 views28 pages

    Rrwerw

    Uploaded by

    Kimmy Kay
    This document summarizes key concepts about chromosomes and sex determination from a lecture, including: 1. Sex chromosomes determine sex, with females having two X chromosomes and males having one X and one Y chromosome. 2. Morgan's experiments with fruit flies provided evidence that genes are located on chromosomes, showing the inheritance of eye color correlated with the X chromosome. 3. Non-disjunction or errors in chromosome segregation provide exceptions that supported the chromosome theory of heredity.

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    Lecture 3: Chromosomes and sex determination

    1. 2. 3. 4. 5. Sex chromosomes Sex linkage Chromosome nondisjunction Sex determination Sex-linked traits in humans

    Red-eyed and white-eyed Drosophila

    The parallel behavior of Mendels factors (=genes) and chromosomes in meiosis


    Sutton and Bovery in 1902 were the first to come up with this idea. It laid the foundation for the chromosome theory of heredity.

    existence alleles in pairs (A, a) is due diploidy (2n) equal segregation is due to disjoining of homologs in Anaphase I independent assortment is due to alternative methaphase alignments of two pairs of homolologs

    AB

    Ab

    ab

    aB

    The parallel behavior of Mendels factors (=genes) and chromosomes in meiosis


    Sutton and Bovery in 1902 were the first to come up with this idea. It laid the foundation for the chromosome theory of heredity.

    existence alleles in pairs (A, a) is due diploidy (2n) equal segregation is due to disjoining of homologs in Anaphase I independent assortment is due to alternative methaphase alignments of two pairs of homolologs constant number of chromosomes in individuals different species have different but constant numbers AB phenotypic difference between sexes correlate with inheritance of certain chromosomes (sex chromosomes) ab

    Fruit fly Drosophila

    Thomas Hunt Morgan 1866-1945


    Columbia Univ. 1910-1927 Nobel Prize in 1933 Caltech 1927-1942

    II, III, IV: autosomes

    I: sex chromosomes

    Human sex chromosomes

    Inheritance pattern of sex chromosomes (X and Y)

    Females: homogametic sex (only X)

    Males: heterogametic sex ( X and Y)

    Notice: equal ratio between the sexes is a consequence of the Law of Equal Segregation

    Inheritance pattern of sex chromosomes (X and Y)

    X-chromosomes: from mothers go to sons and daughters;

    from fathers to daughters

    Inheritance pattern of sex chromosomes (X and Y) from father

    Strictly paternal mode of inheritance of Y chromosome

    to son

    Inheritance of X-linked traits (eye color)

    F1

    Thomas Morgan around 1909

    all red-eyed

    Provided key evidence for chromosomal theory: Inheritance of a certain trait (eye color) was correlated with inheritance one particular chromosomal pair (X chromosomes) indicating that the gene for eye color resides on that chromosome

    Inheritance of X-linked traits (eye color)

    F1

    F2

    all red-eyed

    3 red (2 :1) : 1 white

    Inheritance of X-linked traits (eye color)

    Lets call the mutant allele of the gene for eye color w (for white mutation). Then the wild type allele is w+

    Morgan hypothesized the following: 1.The gene for eye color resides on X chromosome. 2.Females with red eyes are homozygous w+ / w+. 3.Males with white eyes are hemizygous w / Y, because Y chromosome does not carry anyF2 allele of this gene. F1 4.Wild type allele w+ is dominant, mutant allele w is recessive, then heterozygous females w+ / w have red eyes. all red-eyed
    Then he could explain the results of the cross 3 red (2 :1) : 1 white

    Inheritance of X-linked traits (eye color)

    F2

    3 red (2 :1) : 1 white

    Inheritance of X-linked traits (eye color)

    F2

    3 red (2 :1) : 1 white

    Inheritance of X-linked traits (eye color)

    Inheritance of X-linked traits (eye color) a reciprocal cross

    Reciprocal cross produced a different result! In general, such results indicate sex linkage for a gene in question

    Morgans work indicated that the inheritance of a particular gene (w, eye color) correlates with the inheritance of a particular chromosome (X chromosome).

    This suggests that the w gene resides on the X chromosome.


    This correlation was a strong evidence (but yet the final proof) in support of the chromosome theory of heredity.

    "Non-disjunction as proof of the chromosome theory of heredity"


    The same cross as Morgans reciprocal cross: Most of the progeny were as expected. But rarely (1 case out of 2,000) the cross produced exceptional progeny: white-eyed females and red-eyed males

    expecting the same results:

    Normal meiotic segregation of the X-chromosome

    Meiotic non-disjunction of the X-chromosome

    "Non-disjunction as proof of the chromosome theory of heredity"


    The same cross as Morgans reciprocal cross: Most of the progeny were as expected. But rarely (1 case out of 2,000) the cross produced exceptional progeny: white-eyed females and red-eyed males

    Explanation of the exceptional progeny:

    expecting the same results:

    Humans: XX: No Y chromosomes XY: One Y chromosome X0 - females (sterile) XXY - males

    Different types of chromosomal sex determination


    In humans, Y chromosome actively (dominantly) defines maleness (SRY region) In Drosophila, Y chromosome does not define maleness, but is required for male fertility

    XX: Two X chromosomes per 3 pairs of autosomes XY: One X chromosome per 3 pairs of autosomes X0 - males (sterile), XXY females

    "Non-disjunction as proof of the chromosome theory of heredity"


    Explanation of the exceptional progeny:

    Aberrant number of chromosomes in exceptional progeny was verified by direct microscopic examination

    Inheritance of X-linked recessive traits in humans: hemophilia in European royalty


    Queen Victoria was heterozygous for the X-linked recessive hemophilia allele. The trait may have arisen as a mutation in one of her parents germ cells or in her own germ line

    Inheritance of X-linked recessive traits in humans


    Examples: hemophilia - inability of blood to clot, caused by defective Factor VIII, there are also other types; Duchennes muscular dystrophy - fatal, death by early adulthood; red-green color blindness; testicular feminization syndrome (androgen insensitivity) the individuals are XY but phenotypically develop as females (although sterile) 1,500 genes total

    X normal X chromosome Xn - mutant chromosome

    Inheritance of autosomal recessive traits in humans

    Both sexes are affected The trait may not be seen for many generations (heterozygotes)

    Inbreeding is often involved in revealing the trait (to produce homozygotes)

    Inheritance of autosomal dominant traits in humans

    Both sexes are affected with equal ratio Both sexes transmit the trait The trait is seen in every generation

    Inheritance of X-linked dominant traits in humans: faulty tooth enamel and hypertrichosis

    Both sexes are affected May look similar to autosomal dominant but: Males pass the trait only to daughters Females pass the traits to daughters and to sons

    Inheritance of Y-linked traits in humans: sperm development

    Y-chromosome contains only 231 genes including several that are involved in sperm development

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