A maternal effect
is a situation where the phenotype
A phenotype is an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior...
of an organism is determined not only by the environment it experiences and its genotype
The genotype is the genetic makeup of a cell, an organism, or an individual usually with reference to a specific character under consideration...
, but also by the environment and phenotype of its mother. In genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
, maternal effects occur when an organism shows the phenotype expected from the genotype of the mother, irrespective of its own genotype, often due to the mother supplying mRNA or proteins to the egg. Maternal effects can also be caused by the maternal environment independent of genotype, sometimes controlling the size, sex, or behaviour of the offspring. It has been proposed that maternal effects are important for the evolution of adaptive responses to environmental heterogeneity.
Maternal effects in genetics
In genetics, a maternal effect occurs when the phenotype of an organism is determined by the genotype of its mother. For example, if a mutation is maternal effect recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
, then a female homozygous for the mutation may appear phenotypically normal, however her offspring will show the mutant phenotype, even if they are heterozygous for the mutation.
|All offspring show the wild-type phenotype
||All offspring show the mutant phenotype
style="caption-side: bottom; font-weight: normal; margin-top: 1em;"|Genetic crosses involving a maternal effect recessive mutation, m. The maternal genotype determines the phenotype of the offspring.
Maternal effects often occur because the mother supplies a particular mRNA or protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
to the oocyte, hence the maternal genome determines whether the molecule is functional. Maternal supply of mRNAs to the early embryo is important, as in many organisms the embryo is initially transcriptionally inactive. Because of the inheritance pattern of maternal effect mutations, special genetic screen
A genetic screen is a procedure or test to identify and select individuals who possess a phenotype of interest. A genetic screen for new genes is often referred to as forward genetics as opposed to reverse genetics, the term for identifying mutant alleles in genes that are already known...
s are required to identify them. These typically involve examining the phenotype of the organisms one generation later than in a conventional (zygotic) screen, as their mothers will be potentially homozygous for maternal effect mutations that arise.
Example: maternal effect genes in Drosophila early embryogenesis
A Drosophila melanogaster
Drosophila melanogaster is a species of Diptera, or the order of flies, in the family Drosophilidae. The species is known generally as the common fruit fly or vinegar fly. Starting from Charles W...
An oocyte, ovocyte, or rarely ocyte, is a female gametocyte or germ cell involved in reproduction. In other words, it is an immature ovum, or egg cell. An oocyte is produced in the ovary during female gametogenesis. The female germ cells produce a primordial germ cell which undergoes a mitotic...
develops in an egg chamber in close association with a set of cells called nurse cell
-Human physiology:Nurse cells are specialized macrophages residing in the bone marrow that assist in the development of red blood cells. They absorb the nuclei of immature red blood cells and may provide growth factors to help the red blood cells mature...
s. Both the oocyte and the nurse cells are descended from a single germline stem cell
This article is about the cell type. For the medical therapy, see Stem Cell TreatmentsStem cells are biological cells found in all multicellular organisms, that can divide and differentiate into diverse specialized cell types and can self-renew to produce more stem cells...
, however cytokinesis
Cytokinesis is the process in which the cytoplasm of a single eukaryotic cell is divided to form two daughter cells. It usually initiates during the late stages of mitosis, and sometimes meiosis, splitting a binucleate cell in two, to ensure that chromosome number is maintained from one generation...
is incomplete in these cell division
Cell division is the process by which a parent cell divides into two or more daughter cells . Cell division is usually a small segment of a larger cell cycle. This type of cell division in eukaryotes is known as mitosis, and leaves the daughter cell capable of dividing again. The corresponding sort...
s, and the cytoplasm of the nurse cells and the oocyte is connected by structures known as ring canals. Only the oocyte undergoes meiosis
Meiosis is a special type of cell division necessary for sexual reproduction. The cells produced by meiosis are gametes or spores. The animals' gametes are called sperm and egg cells....
and contributes DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
to the next generation.
Many maternal effect Drosophila
mutants have been found that affect the early steps in embryogenesis such as axis determination, including bicoid, dorsal, gurken
oskar is a gene required for the development of the Drosophila embryo. It defines the posterior pole during early embryogenesis....
. For example, embryos from homozygous bicoid
mothers fail to produce head and thorax
The thorax is a division of an animal's body that lies between the head and the abdomen.-In tetrapods:...
Once the gene that is disrupted in the bicoid
mutant was identified, it was shown that bicoid
mRNA is transcribed
Transcription is the process of creating a complementary RNA copy of a sequence of DNA. Both RNA and DNA are nucleic acids, which use base pairs of nucleotides as a complementary language that can be converted back and forth from DNA to RNA by the action of the correct enzymes...
in the nurse cells and then relocalized to the oocyte. Other maternal effect mutants either affect products that are similarly produced in the nurse cells and act in the oocyte, or parts of the transportation machinery that are required for this relocalization. Since these genes are expressed in the (maternal) nurse cells and not in the oocyte or fertilised embryo, the maternal genotype determines whether they can function.
Environmental maternal effects
The environment or condition of the mother can also in some situations influence the phenotype of her offspring, independent of the offspring's genotype.
Paternal effect genes
In contrast, a paternal effect
is when a phenotype results from the genotype of the father, rather than the genotype of the individual. The genes responsible for these effects are components of sperm
The term sperm is derived from the Greek word sperma and refers to the male reproductive cells. In the types of sexual reproduction known as anisogamy and oogamy, there is a marked difference in the size of the gametes with the smaller one being termed the "male" or sperm cell...
that are involved in fertilization and early development. An example of a paternal-effect gene is the ms(3)sneaky in Drosophila
, males with a mutant allele
An allele is one of two or more forms of a gene or a genetic locus . "Allel" is an abbreviation of allelomorph. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation...
of this gene produce sperm that are able to fertilize an egg, but the snky-inseminated eggs do not develop normally. However, females with this mutation produce eggs that undergo normal development when fertilized.