Describe or explain how SNPs in genes at evolutionary conserved brea.pdf

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Describe or explain how SNPs in genes at evolutionary conserved breakpoints can lead to dramatic phenotypic differences between species like chimpanzees and humans even though their genomes are 98% similar? Provide and describe or explain an example of one gene with SNP differences between gorillas and humans that might have resulted changes between humans and apes. Solution SNP ( Single nucleotide polymorphism) is a type of genetic variation among living beings. SNP represents a difference in a single DNA building block i.e, nucleotide. SNP replaces the nucleotide cytosine ( C) With ghe nucleotide thymine (T) in a stetch of DNA. The difference between the two genomes of humans and chimpanzees is actually 4% approximately. This msinly contributes to the phenotypic differences in various species. Humans differbfrom other primates like chimpanzees and apes in cognitive abilities and a significantly larger brain. These correlate with metabolic changes, etc. Example of such genes with SNP differences is 90 TF genes with significant expression levels in humans and chimpanzee brain. Among these KRAB-Zinc finger genes are markedly important. The differentially expressed TFs cluster within robust regulatory network consisting of two distinct but interlinked modules, strongly associated with energy metabolism functions and the others with transcription, vesticular transport and ubiquitination..

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DNA sequence variations are sometimes described as mutations and sometimes as polymorphisms. A gene is said to be polymorphic if more than one allele occupies that gene's locus within a population. Polymorphic sequence variants usually do not cause overt debilitating diseases. Many are found outside of genes and are completely neutral in effect. Others may be found within genes, but may influence characteristics such as height and hair colour rather than characteristics of medical importance. However, polymorphic sequence variation does contribute to disease susceptibility and can also influence drug responses (Single Nucleotide Polymorphisms). It promotes diversity and persists over many generations because no single form has an overall advantage or disadvantage over the others in terms of natural selection. It is originally used to describe visible forms of genes, but now used to include cryptic modes such as blood types, which require a blood test to decode. In addition to having more than one allele at a specific locus, each allele must also occur in the population at a rate of at least 1% to generally be considered polymorphic. Gene polymorphisms can occur in any region of the genome. The majority of polymorphisms are silent, meaning they do not alter the function or expression of a gene. Some polymorphism is visible. For example, in dogs the E locus, can have any of five different alleles, known as E, Em, Eg, Eh, and e. Varying combinations of these alleles contribute to the pigmentation and patterns seen in dog coats. Human blood groups is also a polymorphic effect. Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.

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http://hrst.mit.edu/hrs/evolution/public/profiles/king.html http://hrst.mit.edu/hrs/evolution/public/profiles/jukes.html http://hrst.mit.edu/hrs/evolution/public/papers/simpson1964/simpson1964.pdf http://hrst.mit.edu/hrs/evolution/public/kimura1968/kimura1968.pdf http://hrst.mit.edu/hrs/evolution/public/papers/kimura1968/kimura1968.pdf http://hrst.mit.edu/hrs/evolution/public/papers/simpson1964/simpson1964.pdf DISREGARD: Evolutionary Rate at the Molecular Level b y M O T 0 0 KIMURA National Institute of Genetics, Japan Calculating the rate of evolution in terms of nucleotide substitutions seems t o give a value so high that many of the mutations involved must be neutral ones. COMPARATIVE studies of haemoglobin molecules among change in for a chain consisting of some amino- different groups of animals suggest that, during the acids. For example, by comparing the and chains of evolutionary history of mammals, amino-acid substitution man with those of horse, pig, cattle and rabbit, the has taken place roughly at the rate of one amino-acid figure of one amino-acid change in x was obtained'. http://hrst.mit.edu/hrs/evolution/public/profiles/kimura.html http://hrst.mit.edu/hrs/evolution/public/papers/zuckerkandlpauling1965/zuckerkandlpauling1965.pdf This is roughly equivalent to the rate of one amino-acid substitution in for a chain consisting of amino-acids. A comparable value has been derived from the study of the haemoglobin of primates. The rate of amino-acid substitution calculated by comparing mammalian and avian cytochrome c (consisting of about 100 amino-acids) turned out to be one replacement in 48 x 106 yr (ref. 3). Also by comparing the amino-acid composition of human triosephosphate dehydrogenase with that of rabbit and figure of a t least one amino-acid substitution for every X yr can be obtained for the chain consisting of about amino-acids. This figure is roughly equivalent to the rate of one amino-acid substitution in x yr for a chain consisting of amino-acids. Averaging those figures for haemoglobin, cytochrome c and triosephosphate’ dehydrogenase gives an evolutionary rate of approximately one substitution in 28 x 108 yr for a polypeptide chain consisting of 100 amino-acids. I intend to show that this evolutionary rate, although appearing to be very low for each polypeptide chain of a size of cytochrome c, actually amounts t o a very high rate for the entire genome. First, the DNA content in each nucleus is roughly the same among different species of mammals such as man, cattle and rat (see, for example, ref. 5 ) . Furthermore, we note that the G-C content of DNA is fairly uniform among mammals, lying roughly within the range of 40-44 per These two facts suggest that nucleotide substitution played a principal part in mammalian evolution. I n t h e following calculation, I shall assume that the haploid c ...

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Heliconius melpomene is a species of butterfly with ZW sex determination. H. melpomene\'s wing spots are normally orange, but a recessive Z-linked mutation causes the spots to be yellow, while a recessive autosomal mutation causes the spots to be red. Butterflies homozygous (or hemizygous) for both mutations have no wing spots. What are the expected F1 and F2 phenotypes from a cross between a red-spotted female and a yellow-spotted male? Solution The Heliconius melpomene butterfly having sex determination ZW have normally orange wing spots. Given Recessive Z linked mutation causes the spots to be yellow, if Y is the dominant gene the y represents the recessive gene. The recessive autosomal mutation causes the spot to be red,the recessive autosomal mutation represented by rr. a) WX represents female b) WW represents male Given-: F1 generation The red spotted female is crossed with yellow spotted male ZWrr X ZZy ZZ, WrrZ, ZZy, WrrZy It gives 1 hemizygous butterfly, 1red spotted female butterfly, 1 yellow spotted male and 1 normal orange wing male butterfly. The F2 generation gives the same result..

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