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5th Year OL · Biology
Molecular genetics · Mendelian genetics

Sex-linked inheritance

Every year, Irish families going through the Leaving Cert biology course ask the same question: why do so many more boys than girls in a 5th Year class turn out to be colour-blind? Genes located on the sex chromosomes are not inherited in the same way as autosomal genes, because males and females carry different sets of X and Y chromosomes. This asymmetry explains why colour blindness and haemophilia mainly affect males, why some characteristics appear in only one sex, and why genetics problems have to be read using a specific notation: $X^AX^a$. You will find the answer to the colour-blindness question below.

Sex chromosomes and hemizygosity

Comparison of human sex chromosomes: the woman has two X chromosomes, each with the locus of a gene (two alleles); the man has one X with the locus and a much shorter Y without it (a single allele, hemizygosity). female (XX): two alleles male (XY): one allele X X X Y locus of an X-linked gene
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Explain why genes on the X chromosome are inherited differently in men and in women, and clarify what it means that, for those genes, a man is hemizygous.

Explain why genes on the X chromosome are inherited differently in men and in women, and clarify what it means that, for those genes, a man is hemizygous.

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In the sex-determination system characteristic of mammals, explain why it is the father who determines the sex of the offspring and what the probability of having a son…

In the sex-determination system characteristic of mammals, explain why it is the father who determines the sex of the offspring and what the probability of having a son or a daughter is in each pregnancy. Reason your answer from the gametes produced by each parent.

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X-linked inheritance

Diagram of X-linked recessive inheritance: a carrier mother XᴰXᵈ can pass the allele to a carrier daughter XᴰXᵈ or to a colour-blind son XᵈY. carrier mother XDXd passes on… …to a carrier daughter XDXd …or to a colour-blind son XdY

The "criss-cross" pattern and reciprocal crosses

In X-linked crosses, the father gives his X only to his daughters and his Y only to his sons. The next example shows this with a Punnett square.

Sex-influenced and sex-limited inheritance

On a farm in County Galway, in a breed of sheep, a cross between a horned ram and a hornless (polled) ewe produces horned males and hornless females, even though they share the same heterozygous genotype. How can the same genotype produce opposite phenotypes depending on the sex of the animal?

A pair of autosomal chromosomes with alleles B and b, present in both sexes, gives a bald Bb male (with hair only at the sides and a bare crown) and a non-bald Bb female (with a full head of hair and a fringe). autosomal gene: allele B in males and females B b ♂ male Bb bald (dominant) ♀ female Bb not bald (recessive) the same Bb genotype gives a different phenotype depending on sex
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Common baldness is a sex-influenced trait: the allele B behaves as dominant in men but as recessive in women, so that only BB women are bald, while BB and Bb men are…

Common baldness is a sex-influenced trait: the allele B behaves as dominant in men but as recessive in women, so that only BB women are bald, while BB and Bb men are bald. A heterozygous bald man has children with a heterozygous non-bald woman. a) State the genotypes of both. b) Calculate the probability that a son will be bald. c) Calculate the probability that a daughter will be bald. d) Explain the difference between sex-influenced inheritance and sex-linked inheritance.

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Holandric inheritance and other sex-determination systems

In certain human families, a hearing abnormality is passed without exception from grandfather to father and from him to all of his sons, and it never appears in the women of the line. On which chromosome must an allele be located to pass exclusively from male to male?

Holandric inheritance: the Y chromosome passes from the father to his son by means of an arrow, and no daughter receives it. father son Y chromosome Y chromosome no daughter receives it son: only he inherits the characteristic
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What is holandric inheritance? Explain why a trait linked to the Y chromosome is always transmitted from father to son and why no woman can show it or transmit it.

What is holandric inheritance? Explain why a trait linked to the Y chromosome is always transmitted from father to son and why no woman can show it or transmit it.

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Auricular hypertrichosis (abundant hair growth on the ears) has been described as a trait linked to the Y chromosome. A man who shows it has four sons and three…

Auricular hypertrichosis (abundant hair growth on the ears) has been described as a trait linked to the Y chromosome. A man who shows it has four sons and three daughters. a) State what proportion of his sons would be expected to show the trait. b) State what proportion of his daughters will show it. c) Justify both answers from the transmission of the sex chromosomes.

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In industrial poultry farming, the ZW chromosomal sex-determination system is used for the immediate identification of the sex of chicks right after hatching…

In industrial poultry farming, the ZW chromosomal sex-determination system is used for the immediate identification of the sex of chicks right after hatching (autosexing). Barred plumage is determined by a dominant allele (Z^B) and non-barred by its recessive allele (Z^b).

  1. a) Design the exact parental cross that must be carried out on a farm so that 100% of male chicks hatch with barred plumage and 100% of females hatch non-barred, indicating the genotypes and phenotypes of both parents. Justify why the reciprocal cross would not work for universal phenotypic autosexing at hatching.
  2. b) If the females obtained from this cross are subsequently crossed with a rooster heterozygous for this trait, determine the expected genotypic and phenotypic proportions in the offspring broken down by sex.
  3. c) In a poultry line, an early recessive lethal mutation linked to the Z chromosome (Z^l) is detected that prevents egg hatching. If a healthy carrier rooster (Z^B Z^l) is crossed with normal non-barred hens (Z^b W), predict and justify the sex ratio (male : female ratio) observed among the live chicks that manage to hatch.
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Dosage compensation, X-linkage and non-disjunction

Almost all tricolour (tortoiseshell) cats are females with well-defined alternating black and orange patches, whereas males have a uniform coat. Why does a heterozygous female show an irregular mosaic of patches instead of a uniform intermediate colour?

Random inactivation of one X chromosome in an XᴮXᴼ female. In the early embryo each cell inactivates one of its two X chromosomes. By mitosis, the daughter cells keep the same inactive X, which forms the Barr body. So the adult tissue is a mosaic of patches of cells with either the black allele or the orange allele active. Tissue of an XᴮXᴼ female: cellular mosaic early embryo adult tissue (skin) inactivation at random of one X mitosis Barr body Xᴮ active → black fur Xᴼ active → orange fur Barr body: inactive X, condensed next to the nuclear envelope each patch is a clone: the daughter cells keep the same inactive X
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The phenomenon of gene dosage compensation through random inactivation of one of the X chromosomes (Lyon hypothesis) leads to complex phenotypic situations. Analyse the…

The phenomenon of gene dosage compensation through random inactivation of one of the X chromosomes (Lyon hypothesis) leads to complex phenotypic situations. Analyse the following three independent cases:

  1. a) A tortoiseshell female cat (a mosaic of black and orange patches on a white background) is cloned by somatic cell nuclear transfer. Although the resulting clone is genetically identical to the donor animal, the distribution and shape of its patches are completely different. Justify this fact biologically at the cellular and embryonic development levels.
  2. b) A female heterozygous for haemophilia A exhibits abnormally low levels of clotting factor VIII (7% of normal) and suffers frequent bleeding, whereas her monozygotic twin sister, with the same genotype, exhibits normal levels (around 50%) and is completely asymptomatic. Explain the mechanism responsible for this phenotypic disparity between identical twins.
  3. c) A Barr body is observed in most cell nuclei in a buccal smear from a male tortoiseshell cat. Reasonably deduce the chromosomal abnormality responsible for its phenotype and justify why a male cat with a normal chromosomal complement (XY) cannot display tortoiseshell fur.
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Summary

See all the exercises in this section