Examples of mutations in human genes that affect the phenotype?

The effects of mutations

an apple with a somatic mutationSince all cells in our body contain DNA, there are lots of places for mutations to occur; however, some mutations cannot be passed on to offspring and do not matter for evolution. Somatic mutations occur in non-reproductive cells and won't be passed onto offspring. For example, the golden color on half of this Red Delicious apple was caused by a somatic mutation. Its seeds will not carry the mutation.

The only mutations that matter to large-scale evolution are those that can be passed on to offspring. These occur in reproductive cells like eggs and sperm and are called germ line mutations.

Effects of germ line mutations

A single germ line mutation can have a range of effects:

A single mutation caused this cat's ears to curl backwards slightly.  

No change occurs in phenotype.

Some mutations don't have any noticeable effect on the phenotype of an organism. This can happen in many situations: perhaps the mutation occurs in a stretch of DNA with no function, or perhaps the mutation occurs in a protein-coding region, but ends up not affecting the amino acid sequence of the protein.

Small change occurs in phenotype.

A single mutation caused this cat's ears to curl backwards slightly.

Big change occurs in phenotype.

Some really important phenotypic changes, like DDT resistance in insects are sometimes caused by single mutations. A single mutation can also have strong negative effects for the organism. Mutations that cause the death of an organism are called lethals — and it doesn't get more negative than that.

Little mutations with big effects: Mutations to control genes

Mutations are often the victims of bad press — unfairly stereotyped as unimportant or as a cause of genetic disease. While many mutations do indeed have small or negative effects, another sort of mutation gets less airtime. Mutations to control genes can have major (and sometimes positive) effects.

Some regions of DNA control other genes, determining when and where other genes are turned "on". Mutations in these parts of the genome can substantially change the way the organism is built. The difference between a mutation to a control gene and a mutation to a less powerful gene is a bit like the difference between whispering an instruction to the trumpet player in an orchestra versus whispering it to the orchestra's conductor. The impact of changing the conductor's behavior is much bigger and more coordinated than changing the behavior of an individual orchestra member. Similarly, a mutation in a gene "conductor" can cause a cascade of effects in the behavior of genes under its control.

explanation:

for  example, forests have higher evapotranspiration than other ecosystems,  such  as grasslands, because of their deeper roots and greater leaf area. thus forests have a net moistening effect on the atmosphere and become a moisture source for downwind ecosystems.

transcription is a process in which information is rewritten. it is something our cells must do, in a more specialized and narrowly defined way. in biology, transcription is the process of copying out the dna sequence of a gene in the similar alphabet of rna. it needs to happen in the nucleus because that's where the dna is. dna is always inside the nucleus unless the cell is dividing.

transcription is the first step in gene expression, which involves copying a gene's dna sequence to make an rna molecule. transcription is performed by rna polymerases. it has three stages: initiation, elongation, and termination. rna molecules must be processed after transcription in eukaryotes.

explanation:

long version:

the protein synthesis consists two processes which are, transcription and translation. transcription takes place in the nucleus. it uses dna as a template to make an rna molecule. rna then leaves the nucleus and goes to a ribosome in the cytoplasm, where translation occurs. transcription is the first part of the central dogma of molecular biology: dna → rna. it is the transfer of genetic instructions in dna to messenger rna (mrna). during transcription, a strand of mrna is made that is complementary to a strand of dna.  

these three stages are:

  initiation: in which   is the beginning of transcription.occuring when the enzyme rna polymerase binds to a region of a gene called the promoter. this signals the dna to unwind so the enzyme can ‘‘read’’ the bases in one of the dna strands. the enzyme is now ready to make a strand of mrna with a complementary sequence of bases.

    elongation: in which is the addition of nucleotides to the mrna strand. rna polymerase reads the unwound dna strand and builds the mrna molecule, using complementary base pairs. there is a brief time during this process when the newly formed rna is bound to the unwound dna. during this process, an adenine (a) in the dna binds to an uracil (u) in the rna.

    termination: in which is the ending of transcription, and occurs when rna polymerase crosses a stop (termination) sequence in the gene. the mrna strand is complete, and it detaches from dna.