Chromosomes and Sex

Chromosomes
Chromosomes are defined as thread-like structures of deoxyribonucleic acid DNA that carry
hereditary information for everything from height to eye color. They are found in the nucleus of a
cell and help ensure DNA is replicated and divided evenly during cell division.

Chromosomes consist of a protein and a single molecule of DNA. Chromosomes make us who
we are.

Your DNA blueprint (genome) doesn't exist as one continuous scroll tightly rolled up in the
nucleus of each cell. Instead, your DNA is divided into 46 'chapters' called chromosomes — 23
from each parent. These 23 chromosomes from each parent pair up and form the 23
chromosome pairs in each cell.

Chromosomes are packaging masters, without them DNA would simply not fit inside cells.
Chromosomes keep DNA coiled around spool-like proteins known as histones, according to the
National Human Genome Research Institute. If you unraveled all the DNA from a single human
cell and placed it end-to-end, it would stretch 6 feet (1.8 meters)!
Not all chromosomes are created equal. Some contain a lot of genetic material whilst others
carry comparably little. Chromosome 1 for example is the biggest and contains eight percent of
your total DNA according to Medline Plus. An individual's collection of chromosomes is called a
karyotype. The term chromosome comes from the Greek words for color (chroma) and body
(soma) due to their ability to be strongly stained by dyes used in staining.

Chromosomes can be visible through a strong microscope when a stain is applied. The term
chromosome comes from the Greek words for color (chroma) and body (soma) due to their
ability to be strongly stained by dyes used in research. (Image credit: Paul Starosta via Getty
Images)

NUMBER OF CHROMOSOMES

The number of chromosomes an organism possesses varies considerably but has little to do
with the complexity of the organism or the quantity of DNA it possesses. Most humans have 46
chromosomes whilst a potato has 48! According to the National Human Genome Research
Institute, most bacteria have just one or two circular chromosomes, a fruit fly has eight
chromosomes, a rice plant 24, and a dog 78.
But some organisms have chromosome counts in the thousands! The world record holder for
the highest chromosome number recorded is the adder's tongue fern Ophioglossum reticulatum,
with an estimated 1,440 chromosomes (or 720 pairs!), according to the Guinness World
Records.

In humans, if the number of chromosomes changes, it can lead to changes in growth and
development, according to Medline Plus. When an organism is missing chromosomes or has
extra chromosomes it is known as aneuploidy. Trisomy, refers to the presence of an extra
chromosome in cells, an example of a condition caused by trisomy is Down's Syndrome. People
with Down's Syndrome have three copies of chromosome 21, instead of two copies.
The only human cells that do not contain a pair of chromosomes are reproductive cells
(gametes). Egg and sperm cells carry just one copy of each chromosome so that when they
unite they become a single cell containing a pair of chromosomes.

Humans have 23 pairs of chromosomes.

X AND Y CHROMOSOMES
Human sex chromosomes are referred to as X and Y, and their combination determines a
person's sex. Typically, human females have two X chromosomes while males possess an XY
pairing. This XY sex-determination system is found in most mammals as well as some reptiles
and plants.

Whether a person has XX or XY chromosomes is determined when a sperm fertilizes an egg.

Unlike the body's other cells, the cells in the egg and sperm — called gametes or sex cells —
possess only one chromosome, known as haploid. Gametes are produced by meiosis cell
division, which results in the divided cells having half the number of chromosomes as the
parent, or progenitor, cells. In the case of humans, this means that parent cells have two
chromosomes, known as diploid and gametes have one.

All of the gametes in the mother's eggs possess X chromosomes. The father's sperm contains
about half X and half Y chromosomes. Sperm is the variable factor in determining the sex of the
baby. If the sperm carries an X chromosome, it will combine with the egg's X chromosome to
form a female zygote. If the sperm carries a Y chromosome, it will result in a mal
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During fertilization, gametes from the sperm combine with gametes from the egg to form a
zygote. The zygote contains two sets of 23 chromosomes, for the required 46.

There are however some variations in the number of sex chromosomes. Recent research has
found that a person can have a variety of different combinations of sex chromosomes and
genes, particularly those who identify as LGBT. For example, a certain X chromosome called
Xq28 and a gene on chromosome 8 seem to be found in higher prevalence in men who are gay.
It is important to remember that sex and gender have two separate definitions and many
cultures include more labels than simply "male" and "female" to identify others.

THE STRUCTURE OF X AND Y CHROMOSOMES

While the chromosomes for other parts of the body are the same size and shape — forming an
identical pairing — the X and Y chromosomes have different structures.
The X chromosome is significantly longer than the Y chromosome and contains hundreds more
genes. Because the additional genes in the X chromosome have no counterpart in the Y
chromosome, the X genes are dominant. This means that almost any gene on the X, even if it is
recessive in the female, will be expressed in males. These are referred to as X-linked genes.
Genes found only on the Y chromosome are referred to as Y-linked genes, and expressed only
in males. Genes on either sex chromosome can be called sex-linked genes.

There are approximately 1,098 X-linked genes, though most of them are not for female
anatomical characteristics. Many are linked to disorders such as hemophilia, Duchenne
muscular dystrophy, fragile-X syndrome and several others. They are responsible for red-green
color blindness, considered the most common genetic disorder and found most often in males.
The non-sex feature X-linked genes are also responsible for male pattern baldness.

According to the National Human Genome Research Institute, the Y chromosome is about
one-third the size of the X chromosome. The X chromosome has about 900 genes while the Y
chromosome has about 55. The Y chromosome contains a 'male-determining gene' called the
SRY gene. This gene is what triggers testes to form in the embryo, if there is a mutation in this
gene the embryo will develop female genitalia despite having XY chromosomes.

SEX CHROMOSOME ABNORMALITIES

Sex chromosome abnormalities can result in a variety of conditions. (Image credit: vchal via
Getty Images)
Abnormalities in the sex chromosome combination can result in a variety of gender-specific
conditions that are rarely lethal. These abnormalities can be caused by full or partial
chromosome deletions or duplicated sex chromosomes, according to MSD Manual.

Turner syndrome occurs when females are missing or partially missing an X chromosome,
according to the Mayo Clinic. Turner Syndrome can cause a variety of medical and
developmental problems including short stature, failure in the development of ovaries and heart
defects.

Trisomy X syndrome — also known as Triple X syndrome — is caused by three X chromosomes

instead of two and affects approximately 1 in 1000 females according to the Mayo Clinic. Most
people who have Trisomy X do not experience any symptoms or have mild symptoms.
Occasionally, more significant symptoms may occur which may delay the development of
speech and language skills, behavioral problems, seizures and kidney problems.

According to Medicine Plus, one of the most common sex chromosome disorders is Klinefelter
syndrome which affects approximately one in 650 males and is caused by an extra X
chromosome. In some cases, the symptoms can be so mild that many go undiagnosed until
they reach puberty.
 12 Neat Facts About the Y chromosome
In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called
chromosomes.
Most human cells contain 23 pairs of chromosomes. One set of chromosomes comes from the
mother, while the other comes from the father. The twenty third pair is called the sex
chromosomes, while the rest of the 22 pairs are called autosomes.

Typically, biologically male individuals have one X and one Y chromosome (XY) while those who
are biologically female have two X chromosomes. However, there are exceptions to this rule.

The sex chromosomes determine the sex of offspring. The father can contribute an X or a Y
chromosome, while the mother always contributes an X.

The Y chromosome is one-third the size of the X chromosome and contains about 55 genes
while the X chromosome has about 900 genes.

In genealogy, the male lineage is often traced using the Y chromosome because it is only
passed down from the father.
All individuals carrying a Y chromosome are related through a single XY ancestor who (likely)
lived around 300,000 years ago.

The Y chromosome contains a "male-determining gene," the SRY gene, that causes testes to
form in the embryo and results in development of external and internal male genitalia. If there is
a mutation in the SRY gene, the embryo will develop female genitalia despite having XY
chromosomes.

Variation in the number of sex chromosomes in a cell is quite common. Some men have more
than two sex chromosomes in all of their cells (the XXY variation is called the Klinefelter
syndrome), and many men lose the Y chromosome from their cells as they age. Smoking may
exacerbate this loss.
Some genes that were thought to be lost from the Y chromosome have actually relocated to
other chromosomes.

The X Chromosome
The X chromosome is a relatively large and gene-rich chromosome compared with the Y
chromosome, and it consists of about 160 Mb of genomic deoxyribonucleic acid (DNA) (seeFig.
24.4).19,33,34 This DNA contains 5% of the haploid genome and approximately 850
protein-encoding genes. Several genes on the X chromosome play an important role in sex
development in males and females, gametogenesis, and hypothalamic-pituitary (gonadotrope)
function (e.g., androgen receptor[AR],ANOS1 [also calledKAL1], DAX1[NR0B1],
MAMLD1,SOX3). However, most X-linked genes are unrelated to reproductive function and
have a diverse range of cellular functions.

The X chromosome contains PARs at the distal end of each arm, similar to the Y chromosome
(seeFig. 24.4).19 These regions and several genes in their boundaries function with their
homologs on the Y-chromosome PARs in an autosomal fashion. However, as large numbers of
genes on the X chromosome are located outside the PARs and do not have homologs on the Y
chromosome, a process must exist to maintain the balance in copy number (i.e., gene dosage)
of these genes between males with a single X chromosome and females with two X
chromosomes. This process is calledX inactivation.

The first insight into X inactivation came after the identification in 1949 of the X chromatin body
(i.e., Barr body) in a proportion of cells in females (seeFig. 24.3). This X chromatin is derived
from one of the two X chromosomes in interphase nuclei of these somatic cells. Grumbach and
colleagues showed that the X chromosome giving rise to X chromatin completes DNA synthesis
later than any other chromosome.35 These findings led to the concept that only one X
chromosome is genetically active during interphase, whereas the other X chromosome is
heterochromatinized and relatively inactive. This change in activation state occurs in early
gestation in humans (12–18 days, late blastocyte stage) and is a multistep process, regulated
by the geneXIST and theTSIX antisense transcript, leading to stable and epigenetic silencing of
genes on all but one X chromosome (Lyon hypothesis).36 However, female germ cells beyond
the stage of oogonia are exempt from X inactivation, demonstrating a need for a second X
chromosome for oocyte development.

X inactivation occurs randomly in different cells.37 After inactivation has occurred, the inactive
state of that particular X chromosome is transmitted to all descendants of that cell so that XX
individuals effectively function as genetic mosaics for X-linked traits. If the initial population of
cells is small, skewed X inactivation can occur as a chance event despite random inactivation.In
these situations, heterozygous female carriers of an X-linked disorder may manifest symptoms
of the condition. A subset of genes on the X chromosome may also be imprinted and only
expressed from one allele. Furthermore, recent data suggest that several other X-chromosome
genes (especially on the short arm) may escape X inactivation, potentially in a tissue-specific
manner, and that sex chromosome gene dosage may regulate autosomal gene networks.38,39
All these phenomena might influence phenotype variability of

How does paternal age affect a baby's health

Studies suggest that a father's age at the time of conception (paternal age) might pose health
risks for a baby. However, this field of research is still relatively small and results have been
mixed. More research is needed.
Studies have shown that when paternal age is over 40, there might be a small increase in the
risks of adverse pregnancy outcomes or risks to children's health, including:

Advanced paternal age might be associated with a slightly higher risk of pregnancy loss before
week 20 of pregnancy (miscarriage) or stillbirth.
Rare birth defects. Older paternal age might slightly increase the risk of certain rare birth
defects, including defects in the development of the skull, limbs and heart.
Autism. Research shows a link between older paternal age and an increased frequency of
autism spectrum disorder.
Schizophrenia. Studies suggest an older paternal age might increase the risk of the severe
mental disorder schizophrenia and might be associated with earlier onset of schizophrenia
symptoms.

Childhood acute lymphoblastic leukemia. Older paternal age might be associated with a slightly
increased risk of childhood acute lymphoblastic leukemia, a cancer that results in abnormal
white blood cell production.

Researchers believe the increased risk of health conditions might be due to random genetic
mutations in sperm that occur more commonly in best men than in younger men. Despite the
increase in these risks, however, the overall risks remain small and less certain than those
associated with maternal age over 40.
If you're older than 40 and you're by considering having a baby or you're concerned about your
reproductive health

Contact: 08116059669 Nazif