Cilium

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This article is about organelles. For fine hairs on insect wings, see Cilium (entomology).
Not to be confused with Psyllium.
Cilium

SEM micrograph of the cilia projecting fromrespiratory epithelium in
the lungs
Latin Cilium
Code TH H1.00.01.1.01014
Anatomical terminology
A cilium (Latin for eyelash;
[1]
the plural is cilia) is an organelle found in eukaryotic cells. Cilia are
slender protuberances that project from the much larger cell body.
[2]

There are two types of cilia: motile cilia and non-motile, or primary cilia, which typically serve as
sensory organelles. In eukaryotes, motile cilia and flagella together make up a group of
organelles known as undulipodia.
[3]
Eukaryotic cilia are structurally identical to Eukaryotic flagella,
although distinctions are sometimes made according to function and/or length.
[4]
For information
on biologists' ideas about how the various flagella may have evolved, see evolution of flagella.
Contents
[hide]
1 Types and distribution
o 1.1 Motile cilia
o 1.2 Primary/Immotile cilia
2 Structure, assembly, maintenance, and function
o 2.1 Ciliary rootlet
o 2.2 Sensing the extracellular environment
3 Cilium-related disease
o 3.1 Ciliopathy as an origin for many multi-symptom genetic diseases
4 See also
5 References
6 External links
Types and distribution[edit]
Cilia are rare in most plants, occurring most notably in cycads.
[citation needed]

Cilia can be divided into primary and motile forms.
[5]


Illustration depicting motile cilia.
Motile cilia[edit]
Larger eukaryotes, such as mammals, have motile cilia as well. Motile cilia are usually present
on a cell's surface in large numbers and beat in coordinated waves.
[6]

In humans, for example, motile cilia are found in the lining of the trachea (windpipe), where
they sweep mucus and dirt out of the lungs.
[7]

In female mammals, the beating of cilia in the Fallopian tubes moves the ovum from
the ovary to the uterus.
[7][8]

Ciliates are microscopic organisms that possess motile cilia exclusively and use them for either
locomotion or to simply move liquid over their surface.
Primary/Immotile cilia[edit]
In humans, primary cilia are found on nearly every cell in the body.
[2]

In comparison to motile cilia, non-motile (or primary) cilia usually occur one per cell; nearly all
mammalian cells have a single non-motile primary cilium. In addition, examples of specialized
primary cilia can be found in human sensory organs such as the eye and the nose:
The outer segment of the rod photoreceptor cell in the human eye is connected to its cell
body with a specialized non-motile cilium.
[9]

The dendritic knob of the olfactory neuron, where the odorant receptors are located, also
contains non-motile cilia (about 10 cilia per dendritic knob).
Although the primary cilium was discovered in 1898, it was largely ignored for a century. Only
recently has great progress been made in understanding the function of the primary cilium. Until
the 1990s, the prevailing view of the primary cilium was that it was merely a vestigial organelle
without important function.
[2]
Recent findings regarding its physiological roles in chemical
sensation, signal transduction, and control of cell growth, have led scientists to acknowledge its
importance in cell function, with the discovery of its role in diseases not previously recognized to
involve the dysgenesis and dysfunction of cilia, such as polycystic kidney disease
[10]
congenital
heart disease,
[11]
and an emerging group ofgenetic ciliopathies.
[12]
The primary cilium is now
known to play an important role in the function of many human organs.
[2]
The current scientific
understanding of primary cilia views them as "sensory cellular antennae that coordinate a large
number of cellular signaling pathways, sometimes coupling the signaling to ciliary motility or
alternatively to cell division and differentiation.".
[13]

Structure, assembly, maintenance, and function[edit]

Eukaryotic motile cilium
Inside cilia and flagella is a microtubule-based cytoskeleton called the axoneme. The axoneme of
primary cilia typically has a ring of nine outer microtubule doublets (called a 9+0 axoneme), and
the axoneme of a motile cilium has two central microtubule singlets in addition to the nine outer
doublets (called a 9+2 axoneme). The axonemal cytoskeleton acts as a scaffolding for
various protein complexes and provides binding sites for molecular motor proteins such
as kinesin II, that help carry proteins up and down the microtubules.
[2][14][15]

Cilia are formed through the process of ciliogenesis. The building blocks of the cilia such
as tubulins and other partially assembled axonemal proteins are added to the ciliary tips which
point away from the cell body.
[16]
In most species bi-directional motility called intraflagellar
transport (IFT) plays an essential role to move these building materials from the cell body to the
assembly site.
[17]
IFT also carries the disassembled material to be recycled from the ciliary tip
back to the cell body. By regulating the equilibrium between these two IFT processes, the length
of cilia can be maintained dynamically. Disassembly of cilia requires the action of the Aurora A
kinase .
[18]

Exceptions where IFT is not present include Plasmodium falciparum which is one of the species
of Plasmodium that causemalaria in humans. In this parasite, cilia assemble in the cytoplasm.
[19]

At the base of the cilium where the cilia attaches to the cell body is the microtubule organizing
center, the basal body. Some basal body proteins as CEP164, ODF2
[20]
and CEP170,
[21]
regulate
the formation and the stability of the cilium. A transition zone between the basal body and the
axoneme "serves as a docking station for intraflagellar transport and motor proteins."
[2]

In effect, the [cilium] is a nanomachine composed of perhaps over 600 proteins in molecular
complexes, many of which also function independently as nanomachines.
[13]

Ciliary rootlet[edit]
The ciliary rootlet is a cytoskeleton-like structure that originates from the basal body at the
proximal end of a cilium. It extends proximally toward the cell nucleus. Rootlets are typically 80-
100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-
70 nm. According to the Gene Ontology, the following proteins localize to the ciliary
rootlet: amyloid precursor protein, rootletin, kinesins (KIF5B, KIF5C, KLC2, KLC3),
and presenilins (PSEN1, PSEN2).
[22]

Sensing the extracellular environment[edit]
Some epithelial cells are ciliated, and they commonly exist as a sheet of polarized cells forming a
tube or tubule with cilia projecting into the lumen." Primary cilia on epithelial cells
provide chemosensation, thermosensation and mechanosensation of the extracellular
environment by playing "a sensory role mediating specific signalling cues, including soluble
factors in the external cell environment, a secretory role in which a soluble protein is released to
have an effect downstream of the fluid flow, and mediation of fluid flow if the cilia are motile.
[23]

Cilium-related disease[edit]
Main article: Ciliopathy
Ciliary defects can lead to a number of human diseases. Genetic mutations compromising the
proper functioning of cilia, ciliopathies, can cause chronic disorders such as primary ciliary
dyskinesia (PCD), nephronophthisis or Senior-Loken syndrome. In addition, a defect of the
primary cilium in the renal tube cells can lead to polycystic kidney disease (PKD). In another
genetic disorder called Bardet-Biedl syndrome (BBS), the mutant gene products are the
components in the basal body and cilia.
[12]

Lack of functional cilia in female Fallopian tubes can cause ectopic pregnancy. A
fertilized ovum may not reach the uterus if the cilia are unable to move it there. In such a case,
the ovum will implant in the Fallopian tubes, causing a tubal pregnancy, the most common form
of ectopic pregnancy.
[citation needed]

Since the flagellum of human sperm is actually a modified cilium, ciliary dysfunction can also be
responsible for male infertility.
[24]

Of interest, there is an association of primary ciliary dyskinesia with left-right anatomic
abnormalities such as situs inversus (a combination of findings known as Kartagener's
syndrome) and other heterotaxic defects. These left-right anatomic abnormalities can also result
in congenital heart disease.
[25]
In fact, it has been shown that proper cilial function is responsible
for the normal left-right asymmetry in mammals.
[26]

Ciliopathy as an origin for many multi-symptom genetic diseases[edit]
Recent findings in genetic research have suggested that a large number of genetic disorders,
both genetic syndromes and genetic diseases, that were not previously related in the medical
literature, may be, in fact, highly related in the root cause of the widely varying set of
medical symptoms that are clinically visible in the disorder. These have been grouped as
an emerging class of diseases called ciliopathies. The underlying cause may be a dysfunctional
molecular mechanism in the primary cilia structures, organelles which are present in many
diverse cellular types throughout the human body. Cilia defects adversely affect "numerous
critical developmental signaling pathways" essential to cellular development and thus offer a
plausible hypothesis for the often multi-symptom nature of a large set of syndromes and
diseases.
[12]
Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl
syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-
Gruber syndrome, Sensenbrenner syndrome and some forms of retinal degeneration.
[12][23]

See also[edit]