EVOLUTION OF THE Y

CHROMOSOME
PROVIDES SOME
INTERESTING INSIGHTS
INTO MAMMALIAN AND
EVEN HUMAN
EVOLUTIONARY
PATTERNS. WE ARE
GOING TO DISCUSS
WHAT IS KNOWN AND

WHAT CONCLUSIONS
ARE SUGGESTED BY
THE EVIDENCE.

What is the Y Chromosome?

23rd pair of chromosomes
One of two sex chromosomes in mammals
Absence/presence determines whether an
individual is male or female
Determined by the SRY gene
Fetus develops into a male
Formation of testes

More About the Chromosome

Contains about 50-60 genes providing
instructions for making proteins
Composed of about 59 million base pairs
2% of total DNA of a human man
Genes passed down from father to son are
called holandric traits, only found on Y
chromosome

Y Linked Traits
Genes located only on the Y chromosome
Affected men will never have an affected
daughter
100% affected sons

Lead Research Scientists

First researchers to discover the Y chromosome and its function were
Nettie Stevens and Edmund Beecher Wilson

In 1905, Nettie Stevens, unlike other researchers, discovered that the Y

chromosome determined gender.

The same year, Edmund Beecher Wilson concluded the same ideas as
Nettie Stevens.

Lead Research Scientists

Nettie Stevens
Her work on sex determination was first published in 1905
While investigating mealworms, she discovered that females contained 20
chromosomes and males contained 19 chromosomes and an extra small
chromosome
Later found that males sex cells contained X and Y chromosomes, and females
only made X chromosomes
Also concluded that sex is a chromosomal factor and males determine the
gender

http://www.geneticstv.org/scientists/stevens.htm
http://www.nature.com/scitable/topicpage/nettie-stevens-a-discoverer-of-sex-chromosomes-6580266

Lead Research Scientists

Edmund Beecher Wilson
Advanced the theory that gender is inherited by the Y chromosomes produced
only by males
In 1905 his Studies of Chromosomes paper was published
This paper was also based on insect chromosomes

http://www.geneticstv.org/scientists/wilson.htm

Recent Y chromosome discoveries

One Y chromosome lineage found in South Carolina expanded the Y
chromosome tree

Consumer genetic testing company identified that the lineage didnt match
any existing Y chromosome trees on file

Research concludes that pockets of genetically isolated communities in the

world such as this one did not match those previously discovered

Recent Y chromosome discoveries

(cont.)
The DNA sample matched the Y
chromosome DNA of 11 men all from a small
region of western Cameroon in sub Saharan
Africa.
However, these individuals with variable
sequences did not descend from the same
grandfather.

The Y chromosome is much older than

we thought.

This recent discovery and analysis of this

rare African American Y chromosome
indicates that the lineage actually diverged
about 338,000 years ago.

So how old is the Y chromosome?

Through this discovery, researchers and geneticists at the University of
Arizona have concluded that this is the oldest known genetic branch of
the Y chromosome.

What does it mean?

This discovery pushes back the time that the last known common ancestor
with Y chromosome lived by almost 70% (338,000 years ago).
The Neanderthals are believed to have split from ancestral human lineage
around 300,000 years ago and modern humans did not appear on the fossil
record until 100,000 years later.
This time actually predates the oldest known anatomically modern
human fossils! (Stolte, 2013)

Evolution of the Y chromosome

Scientists speculate that around 300 million years ago the SOX3 gene
was on the same location on the proto X and Y chromosomes which both
began as autosomes.

Since a mutation in the SOX3 gene created the gene SRY on the Y
chromosome, researchers also conclude that monotremes are the most
ancient mammals with the SRY gene.

Evolution of the Y chromosome (cont.)

Since the Y chromosome is 1/3 the size of the X chromosome and is only
able to recombine via the tips of the chromosome, the Y chromosome
tends to accumulate changes as well as deletions much faster.

In addition, the repetition of sequences of male spermatogenesis genes on

the Y chromosome ensure that spermatogenesis will proceed via proteins
produced with remaining genes despite any deletions that may occur.
The Y chromosome is here to stay.

Y Chromosome Facts
mutation in the SOX3 gene produced SRY gene
SOX3 gene is associated with regulation of embryonic
development and determination of cell fate

SRY gene: regulates formation of testes from the undifferentiated

embryonic gonad

Y Chromosome Facts cont.

autosomes donate a block of genes that extended the length of both the
X and Y chromosome

RSP4 retained similar function on both X and Y chromosomes

RPS4 (ribosomal protein small subunit, protein 4): essential for ribosome
formation

although function remained the same, location changed due to inversion

inversions which are internal recombination events account for most of
the rearrangement on Y chromosomes

Y Chromosome Facts Cont.

Y chromosome became susceptible to deletions, resulting in size decrease
only the tips of the Y chromosome are able to recombine with homologous
genes on X chromosome

while recombination can occur across full length of two identical X

chromosomes in females (XX)

without recombination to preserve integrity, Y lost more genes and shrank

more

modern Y chromosome is 1/3 the size of X chromosome

Y Chromosome Facts cont.

autosomes contribute a copy of DAZ spermatogenesis gene to Y chromosome
in modern Y chromosomes there are four DAZ sequences
DAZ: essential for production of sperm
spermatogenesis: process by which spermatozoa are produced from male primordial
germ cells by way of mitosis and meiosis

Y Chromosome sometimes referred to as hall of mirrors because of the four identical

DAZ genes

due to multiple copies of DAZ genes, deletion can occur but spermatogenesis will still
be possible

History
of the
Histor
y of
the YYChromosome
Chrom osom e

The human X and Y chromosomes are a unique pair. The other chromosome pairs, called the autosomes, appear to be identical twins;
they are superficially indistinguishable. In contrast, the X and Y chromosomes appear to be vastly different from one another. Why are the
sex chromosomes so different? How did they get that way?

!Over the last centur y, scientists have used various m ethods to study

the Y-chrom osom e and why it m aintains a different structure than its
The Y chromosome is only one-third the size of the X. Although the Y has a partner in X, only the tips of these chromosomes are able to
recombine.
Thus,
most of the Y chromosome
fromother
father to son
in a pattern resembling
par
tner
X-chrom
osom e,is inherited
unlike
autosom
es asexual, not sexual, reproduction. No
recombination means no assortment, so deleterious mutations have no opportunity to be independently selected against. The Y
chromosome therefore tends to accumulate changes and deletions faster than the X. Degradation doesn't occur in X chromosomes
because during female meiosis, the X has the other X as a full partner in recombination.

!Specifically they have focused on

Clues of how the Y chromosome evolved can be found by comparing the genes and the sequences of X and Y chromosomes as well as
homologous genes of different species. One method scientists use to estimate evolutionary time is observing how homologous genes have
become different over time in different species. All DNA sequences accumulate random mutations over time, so species that are distant
relatives should have more different sequences than close relatives because they have been evolving separately for a longer time. Once
recombination stopped between portions of X and Y, genes located on those parts started to evolve separately as homologs. Apparently,
this happened in stages, so some X-Y gene pairs are more related than others, meaning they stopped recombining more recently. Also,
chunks of genes stopped recombining, and by mapping their positions on the chromosome, one can guess that an event, like an inversion,
may have taken place.

! DNA sequences of a wide range of organism s

! Ancestral genes and gene pools
! Rates of recom bination am ongst generations
!
The role that the Y-chrom osom e has had in sex deter m ination
Travel back in time, when human ancestors were reptile-like forms, and peer into the processes that shaped the X and Y chromosomes.

Mammalian Evolutionary Patterns

The Y chromosome of placental mammals
Sex was determined by a variety of means

Recombination of proto-sex-chromosomes

Mammalian Evolutionary Patterns

(CONT.)
Recombination between the X and Y for male genes became
disadvantageous

Fitness advantage and its result in natural selection

Y chromosomes that hardly recombined with the X chromosomes

Female and male sex determination

Mutation
Mutation and the integrity of the Y
chromosome

Mutations building up over time

Genetic load

Human Evolution Of Y Chromosome

- Over time, structural changes in the Y chromosome resulted in its current form,
which is specialized to trigger male development.
- The Y chromosome is only one-third the size of the X.
- Although the Y has a partner in X, only the tips of these chromosomes are
able to recombine.
- Most of the Y chromosome is inherited from father to son in a pattern
resembling asexual, not sexual, reproduction.

Cont..
No recombination means no re-assortment, so mutations have no opportunity to be
independently selected against.

The Y chromosome therefore tends to accumulate changes and deletions faster than the
X.

Degradation doesn't occur in X chromosomes because during female meiosis, the X has
the other X as a full partner in recombination.

Sources
University of Arizona. "Human Y chromosome much older than previously
thought." ScienceDaily. ScienceDaily, 5 March 2013.
www.sciencedaily.com/releases/2013/03/130305145821.htm

http://www.hhmi.org/biointeractive/evolution-y-chromosome
"Mammalian Y Chromosomes Retain Widely Expressed Dosage-sensitive
Regulators." Nature. N.p., 23 Apr. 2014. Web. 3 Mar. 2015.

"Why the Y Is Here to Stay." Why the Y Is Here to Stay. N.p., May 2014. Web. 01
Apr. 2015.

"Result Filters." National Center for Biotechnology Information. U.S. National

Library of Medicine, n.d. Web. 01 Apr. 2015.

More Sources
http://www.hhmi.org/biointeractive/evolution-y-chromosome

http://www.learner.org/courses/biology/textbook/gender/gender_4.html

http://petrov.stanford.edu/pdfs/47.pdf