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Lactate dehydrogenase isozyme patterns in pigeons. Note the ve bands for some individual samples. Lanes I, II, and III under each tissue type indicate the range of individual variation. (W. H. Zinkham, et al., A Variant of Lactate Dehydrogenase in
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Somatic Tissues of Pigeons in Journal of Experimental Zoology 162, no. 1 (June):45 46, 1966. Reproduced by permission of the Wistar Institute.)
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II. Mendelism and the Chromosomal Theory
5. Sex Determination, Sex Linkage, and Pedigree Analysis
The McGraw Hill Companies, 2001
Five
Sex Determination, Sex Linkage, and Pedigree Analysis
BOX 5.2 (CONTINUED)
Protein chemists have veri ed this tetramer model. In this way, electrophoresis has helped us determine the structure of several enzymes. (The term isozymes refers to multiple electrophoretic forms of an enzyme due to subunit interaction rather than allelic differences.) Chemists have also discovered that the ve forms differ in concentration in different tissues of the body ( g. 4). This has led to various hypotheses as to how the production of enzymes is controlled developmentally. Electrophoresis is also valuable in clinical diagnosis. In various diseases, cell destruction causes the release of proteins into the bloodstream. Thus, the lactate dehydrogenase pattern is found in the blood in certain disease states ( g. 5). This is why examination of the blood LDH is often a diagnostic test used to pick up early signs of heart and liver disease (among others).
Normal serum
Heart muscle
Liver
Skeletal muscle
Normal serum
Myocardial Infectious hepatitis infarction
Acute leukemia
LDH1
LDH1
LDH2
LDH2
LDH3
LDH3
LDH4
LDH4
LDH5
LDH5
LDH patterns found in different tissues in human beings.
LDH patterns from normal human serum and from serum affected by various disease states.
The gene product of XIST is an RNA that does not seem to be translated into a protein. Rather, using localization techniques, geneticists have found this RNA is associated with Barr bodies, coating the inactive chromosome. Current research is aimed at determining the details of this interaction.
Dosage Compensation for Drosophila
Dosage compensation also occurs in fruit ies, and it appears that the gene activity of X chromosome loci is also about equal in males and females. The mechanism is different from that in mammals since no Barr bodies are found in fruit ies. Instead, the male s single X chromosome is hyperactive, approaching the level of transcriptional activity of both of the female s X chromosomes combined. Researchers have discovered a multisubunit protein complex called MSL (for male-speci c lethal) that binds to
hundreds of sites on the single X chromosome in males. Presumably, the binding mediates the hyperactivity of the genes on the X chromosome. (We discuss control of transcription later in the book.) At least ve genes contribute products to this protein complex: msl1, msl2, msl3, mle, and mof. (Mle comes from maleless, and mof comes from males absent on the first.) Along with this protein complex are RNAs that also bind to the male X chromosome. These RNAs, also implicated in dosage compensation, are the products of the rox1 and rox2 genes (for RNA on the X ).Together, the MSL protein complex and the RNAs comprise a compensasome. Mutant alleles of the male-speci c lethal (msl ) genes disrupt dosage compensation in males and are, as their names imply, lethal. However, they appear to have no effect in females. Expression of at least one of these genes, msl2, is repressed by the protein product of the Sxl gene. Thus, sex determination and dosage compensation are
Tamarin: Principles of Genetics, Seventh Edition
II. Mendelism and the Chromosomal Theory
5. Sex Determination, Sex Linkage, and Pedigree Analysis
The McGraw Hill Companies, 2001
Sex Linkage
Jewish book of laws and traditions speci ed exemptions to circumcision on the basis of hemophilia among relatives consistent with an understanding of who was at risk.) Before we continue, we need to make a small distinction. Since both X and Y are sex chromosomes, three different patterns of inheritance are possible, all sex linked (for loci found only on the X chromosome, only on the Y chromosome, or on both). However, the term sexlinked usually refers to loci found only on the X chromosome; the term Y-linked is used to refer to loci found only on the Y chromosome, which control holandric traits (traits found only in males). Loci found on both the X and Y chromosomes are called pseudoautosomal. In human beings, at least four hundred loci are known to be on the X chromosome; only a few are known to be on the Y chromosome.
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