Oooc oc

Scurvy, cause, 1:63 SDS (sodium dodecyl sulfate), 3:208, 3:220

SDS-PAGE (polyacrylamide gel electrophoresis), 2:47-48 Se and se genes, 1:83-84 Sea slugs and urchins, as model organisms, 3:60 Secretors and nonsecretors, 1:83-84 Segment development, homeotic genes and, 1:207-208, 2:45, 2:65-66

Segregation analysis, defined, 4:3 Segregation, eugenics and, 2:16 Seipin (GNG3) gene, 1:211 Seip's syndrome, progeroid aspects, 1:2

Selectable markers gene cloning tools, 1:153, 3:152, 4:128

gene targeting tools, 2:72,

4:125-126 negative selection, 3:16 polymorphisms as, 3:162 positive selection, 3:16-17, 4:69 Selection, 4:67-69

in antibiotics industry, 4:68-69 artificial, 4:67, 4:68-69 balanced polymorphism, 1:45-46 in humans, 4:69 sources of variation, 4:67-68 See also Eugenics; Heterozygote advantage; Hybridization (plant and animal breeding); Natural selection Selenium, hyperaccumulators of, 1:61

SELEX (systematic evolution of lig-ands by exponential enrichment), 1:176-177 Selfing (self-pollination)

by Arabidopsis thaliana, 1:35 as inbreeding, 2:189 of maize, 3:9

in Mendel's experiments, 3:33-34 Semen, abnormal, and infertility,

4:19 Senescence, cell cancer and, 1:96 defined, 1:3, 1:96 Senility. See Alzheimer's disease;

Dementia Sequana Pharmaceuticals, gene mining by, 2:123-124 Sequencing. See DNA sequencing; Protein sequencing; RNA sequencing Serial analysis of gene expression (SAGE) analysis, 1:228-229

Serial endosymbiotic theory,

3:56-57 Serine (Ser)

chemical properties, 3:200 genetic code, 2:85, 4:137 glycosylation, 3:179 phosphorylation, 3:178 substitution, Tay-Sachs disease, 4:101

Serine/threonine kinases, 4:87, 4:89-90

Serotonin 1B receptor, 1:41-42 Serotonin, as extranuclear hormone, 2:161

Serotonin, neurotransmitter systems, 1:5

Serum albumin, post-translational control, 3:181 Serum cholesterol, and cardiovascular disease, 1:101 Serum, defined, 1:82 Severe combined immune deficiency (SCID), 4:74-78 ADA-SCID, 4:75, 4:77 bone marrow transplants,

4:75-77 cartilage-hair hypoplasia, 4:76 clinical features, 2:202, 4:75 David Vetter, 1:77, 4:75, 4:76 enzyme replacement therapy,

4:75, 4:77 gene therapy, 2:76, 2:81, 4:75-78 inheritance patterns, 4:75 interleukin-7 receptor (x-chain deficiency), 4:75 JAK3 deficiency, 4:75-76, 4:77 RAG1 and 2 deficiencies, 4:76 reticular dystenesis, 4:76 statistics, 4:75

X1 (XSCID, XL-SCID), 4:75 Sex chromosomes, and sexual development. See Chromosomes, sex Sex determination, 4:78-82 AIS, 1:21-26

crossing-over aberrations, 1:197 female as default, 4:79, 4:81 in fruit flies, 4:81-82 intersex organisms, 1:25, 3:77,

3:164, 4:80, 4:82, 4:127, 4:175 Mullerian ducts, 1:22, 1:23, 4:79, 4:79

by prenatal testing, 3:187, 4:29 primary, 4:78 in reptiles, 4:81 in roundworms, 4:62, 4:81-82 secondary, 4:78-79

SMCY genes, 4:177 SRY gene and, 4:80-82,

4:126-127, 4:177 testis-determining factor, 4:79-80 TSPY genes, 4:177 Wolffian ducts, 1:21, 1:22, 1:23,

4:79, 4:79 X chromosomes and, 2:199, 2:203, 3:76, 3:77, 3:106, 4:80-81, 4:174 Y chromosomes and, 1:21, 1:23, 2:199, 2:203, 3:65, 3:76, 3:106, 4:80-81, 4:176-177 Sex-linked inheritance, 2:203, 2:205 distinguished from imprinted genes, 2:183 X-linked, 1:130-131, 3:73-74 Y-linked, 2:203, 3:65-66,

4:176-179 See also X-linked disorders Sexual development

AIS individuals, 1:21, 1:23-26 and chromosomal aberrations,

1:119, 4:80-81 crossing over aberrations, 1:197 dimorphism, 4:177 normal human, 1:21-23, 1:22, 3:65, 4:78-79, 4:79 Sexual orientation, 4:83-85 AIS individuals, 1:23, 1:25 biological and genetic linkage studies, 4:84 defined, 1:25 eugenics and, 2:20 twin and family studies, 4:83-84 X chromosome role, 4:83-84 SH2 proteins, 4:88, 4:90 Sharp, Lester, 3:21 Sheep. See Livestock Sherman Paradox, 2:40, 2:40 Sherman, Stephanie, 2:40 Shine-Dalgarno sequence, 4:138 Shingles

AIDS and, 2:155 causal organism, 4:165 Short interspersed repeated elements (SINEs), 4:8, 4:10, 4:11, 4:144, 4:145, 4:147-148 Short tandem repeats (microsatellites), 3:160 cancer role, 4:11 defined, 1:246 described, 4:8

gene evolution role, 2:28, 2:115, 3:65

as molecular markers, 1:188,

3:13-14, 4:11 multiple alleles, 3:82-83

as polymorphisms, 3:162 pseudogene creation, 3:210 satellite sequences, 4:7-9 schematic organization, 4:10 sequences and analysis,

1:235-236, 2:192 in telomeres, 4:9 VNTRs, 1:236, 3:6, 3:14, 3:162, 4:8-9

Shull, George Harrison, 2:146, 3:10, 4:68

Sibertia acuminata, bioremediation by, 1:61 Sibling recurrence ratios, 2:58 Sickle-cell disease asymptomatic carriers, 2:93,

2:137, 3:177 bone marrow transplants, 2:138 cause, 1:239, 2:27, 2:137-138,

3:153, 3:200 distinguished from sickle-cell trait, 2:137 gene therapy, 2:78-79, 2:80, 2:138

inheritance patterns, 1:213,

2:135, 2:141, 2:148, 4:68 medications, 2:138 population screening, 3:177, 3:219

as simple trait, 2:101-102 symptoms, 2:137, 2:138, 2:202, 3:153

as transversion mutation, 3:95 Sight. See Vision

Signal peptides, defined, 1:112, 4:85 Signal receptors, function, 4:85-86, 4:86

Signal transduction, 4:85-91 achondroplasia and, 2:130 adenyl cyclase, 4:88 bioinformatics research tools, 1:56

3:129-130, 4:89-90 CREB, 4:88, 4:89 cyclic-AMP role, 1:5-6, 1:110, 4:89

cytokine pathway, 4:75 defined, 1:56, 4:86 in eukaryotic cells, 1:110 GPCR pathway, 4:88-89, 4:88 GPCR-RTK pathway interactions, 4:89 intracellular, 2:66-67 JAK-STAT, 4:75-76, 4:77

MAP kinase cascade, 4:90, 4:91 N-terminal signal sequences, 3:181

phospholipase C role, 4:89 phosphorylation/dephosphoryla-

pleiotropic effects on, 3:153-154 protein synthesis, 2:52,

3:202-203 RTK pathway, 4:87-88, 4:89, 4:90 SCID role, 4:75-76, 4:77 transcription factors and,

4:115-117 transduction cascades, 4:86, 4:86 vision and, 4:89 Signals, types of, 4:85 Silencer (repressor) elements, 2:64 Silent mutations, 2:127, 2:157, 3:93,

3:96, 3:99 Simian sarcoma retrovirus (SSV), and cancer, 3:130 Simon, Theophile, 2:208 Simple tandem repeat polymorphisms (STRPs), 3:6, 3:14 Simple (Mendelian) traits and birth defects, 1:75 cystic fibrosis, 1:177 distinguished from complex traits, 1:177, 2:60-61 eye color, 2:32 genetic information about, 2:101-102 Huntington's disease, 1:177, 1:179

See also Mendelian genetics Simpson, O.J., DNA profiling, 1:73 Simpson-Golabi-Behmel syndrome, 2:132

Sin Nombre virus, characteristics,

4:165

SINEs (short interspersed repeated elements), 4:8, 4:10, 4:11, 4:144, 4:145, 4:147-148 Single-gene mutation defects. See

Simple (Mendelian) traits Single-nucleotide polymorphisms (SNPs). See Polymorphisms, sin-gle-nucleotide Single-strand binding proteins RPA, 4:14

SSB, 4:13, 4:14, 4:18 Sinsheimer, Robert, 2:172 Skeletal dysplasias cartilage matrix protein mutations, 2:131-132 characteristics, 2:130 growth factor receptor mutations, 2:130

Skin disorders aging and, 1:7 cancer, 1:93, 1:99 neurofibromatosis, 3:153, 3:154 progeria and, 1:1, 1:3 SLC19A2 gene, 1:212 Sliding clamps, on DNA polymerase, 4:16, 4:17, 4:18 Slime mold (Dictyostelium discoideium), as model organism, 3:60

Sloan's achromatopsia color vision test, 1:172 Small nuclear ribonucleoproteins

(snRNP), 3:125, 4:45 Smallpox as bioterrorism tool, 1:69 causal organism, 4:165 vaccine to combat, 4:171 SMCY genes, and transplant rejection, 4:177 Smith, Hamilton, 1:71 Smith, Michael, 3:91 SMN (survival of motor neurons)

protein, 3:124 Smoking (tobacco)

addiction, inheritance patterns,

1:5, 3:214 and birth defects, 1:77 and cancer, 1:92, 1:98, 1:100,

1:179-180 and cardiovascular disease, 1:101 dimethylsulfates in tobacco, 1:242

and eye diseases, 1:179 mutagens in smoke, 1:77, 1:92, 1:98, 1:100, 1:179-180, 1:242, 3:88-89 and Parkinson's disease, 4:161 SnoRNA (small nucleolar RNA),

4:51, 4:57, 4:59 SNPs. See Polymorphisms, single-

nucleotide SnRNA (small nuclear RNA), 3:211,

4:52, 4:57, 4:59 SnRNP (small nuclear ribonucleo-

proteins), 3:125, 4:45 Social phobia, genetic components, 3:214

Sodium dodecyl sulfate (SDS),

3:208, 3:220 Soil contamination, bioremediation,

1:59-62, 1:62 Somatic cell gene therapy, advantages/disadvantages, 2:81, 2:82-83 Somatic cells diploid number, 3:24, 3:60, 3:163 mutations, consequences, 3:93

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