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The mouse genome: an overview
“Of particular interest? in the opinion of geneticists and developmental biologists. Papers “of particular interest” selected, from the previous year’s literature, by the authors of reviews in the section on Mammalian Genetics in the June 1992 issue of Current Opinion in Genetics and Development. The gene for X-linked Kallmann syndrome: a human neuronal migration defect selected by Andrea Ballabio and Giovanna Camerino LZolIIS R, HARDELLN J-P, J.EVILLlERZ5 J, ClAvERlE J-M, COMPAN S, WIJNDEFUE V, MILLA~SEAU P, LEP~CLIER D, COHEN D, CATERINA D, m AL: The Candidate Gene for
the X-linked Kallmann Syndrome Encodes a Protein Related to Adhesion Molecules. Cell 1991, 67:423-435. This paper describes the isolation of W-X by sequencing the entire critical interval and identifying the candidate exons using multiparameter computer programs. It also reports the identtication of homologous sequences on the Y chromosome and the characterization of the predicted protein product encoded by kZ4LX KRAMER H, CAGAN RL, ZIPURSKY SL: Interaction of Bride of Sevenless Membrane-bound Ligand and the Sevenless Tyrosine Kinase Receptor. Nutwe lW1, 352:207-212.
This paper provides the evidence for direct interaction between the tyrosine kinase receptor, sevenless, and bride of sevenless (boss). Using electron microscopy and transfection in cultured cells the authors demonstrate that boss, an intergral membrane protein, is indeed the l&and for sevenless. The mouse genome: an overview selected by Verne M, Chapman and Joseph l-l. Nadeau COKNALLRJ, ATMAN TJ, HF~B CM, TODD JA: The Generation of a Library of PCR-analyzed Microsatellite Variants for Genetic Mapping of the Mouse Genome. Genomics 1391, 10:87-l. initial description of PCR-amplified microsatellite loci that have been used in the analysis of the inheritance of type I diabetes in non-obese diabetic mice. Descriptions of the oligonuclcotide sequences of the PCR primers, the relative site of the amplified fragments and the nature of variation among common inbred strains are presented. CWPAKIS G, FRITXH R, FICKEN~CHER H, DE~JTXH IJ, G~ULDWG M, GRUSS P: The Molecular Basis of the Undulated/Pax- I Mutation. Cell 1991, 66873~$3I34. Pax- I in the undulated (un) mutation has a glycineserine exchange in a conserved portion of the paired domain. A comparison of the DNA-binding affinities of Pax-l and the mutant Pux- I/un-encodtz protein demon-
strated a marked decrease in the DNA-binding affinity of the Pax-l/un protein and an alteration in the specificity of the DNA-binding sites. The PaxZ/m mutation involves a change in the functional properties of the gene-encoded product rather than a complete deletion of the gene product. THOMAS KR, MUS~I IS, NEI!MANN PE, CAPECCHI MR: Swayirtg is a Mutant Allele of the Proto-Oncogene Wnt-I. Cell 1!391, 67~969-976. The recessive neurological mutation swaying has the same phenotype as the mice homozygous for the targeted Wnt-1 allele. Analysis of the Writ-I/SW mutation with the Writ- l/neo allele further established the allelic nature of these mutations. Molecular analysis of the SW mutation identified a frame-shift mutation (GGGG to GGG). DECHIARA TM, ROBERTSON EJ, EF~TRAT~ADIS A Parental Imprinting of the Mouse Insulin-like Growth Factor II Gene. Cell 1991, t&3+-859. Targetted disruption of the insulin-like growth factor-2 &/2) gene in embryonic stem cells is recovered into the germline by means of the use of blastocyst injection chimeras. Transmission of mutated I, through the male rest&s in growth-deficient progeny, while transmission through the female does not produce an altered phenotype. The results indicate that &f2 is parentally imprinted and that active 1, is only transmitted through the male. An overview of the developmental genetics in mammals selected by Salome Gluecksohn-Waelsch KEITH AD, BERNSTEIN A Molecular Basis of Mouse Developmental Mutants. Genes Dee 191, 5311~1123. Provides an essential introduction to previous studies of the dmelopmental genetics of cell type-specific mu tations, which are currently at the center of successful molecular analysis, and the identification of growth factors and signal transduction systems as targets of the mutant effects. BLAU HM, BALTIMC)~ D: Differentiation Requires Continuous Regulation. J Cell &ol, 1991, 112:781-783. A short but excellent treatise of the role of regulatoq genes in development.
@ 1992 Current Biology
the X-linked Kallmann Syndrome Encodes a Protein Related to Adhesion Molecules. Cell 1991, 67:423-435. This paper describes the isolation of W-X by sequencing the entire critical interval and identifying the candidate exons using multiparameter computer programs. It also reports the identtication of homologous sequences on the Y chromosome and the characterization of the predicted protein product encoded by kZ4LX KRAMER H, CAGAN RL, ZIPURSKY SL: Interaction of Bride of Sevenless Membrane-bound Ligand and the Sevenless Tyrosine Kinase Receptor. Nutwe lW1, 352:207-212.
This paper provides the evidence for direct interaction between the tyrosine kinase receptor, sevenless, and bride of sevenless (boss). Using electron microscopy and transfection in cultured cells the authors demonstrate that boss, an intergral membrane protein, is indeed the l&and for sevenless. The mouse genome: an overview selected by Verne M, Chapman and Joseph l-l. Nadeau COKNALLRJ, ATMAN TJ, HF~B CM, TODD JA: The Generation of a Library of PCR-analyzed Microsatellite Variants for Genetic Mapping of the Mouse Genome. Genomics 1391, 10:87-l. initial description of PCR-amplified microsatellite loci that have been used in the analysis of the inheritance of type I diabetes in non-obese diabetic mice. Descriptions of the oligonuclcotide sequences of the PCR primers, the relative site of the amplified fragments and the nature of variation among common inbred strains are presented. CWPAKIS G, FRITXH R, FICKEN~CHER H, DE~JTXH IJ, G~ULDWG M, GRUSS P: The Molecular Basis of the Undulated/Pax- I Mutation. Cell 1991, 66873~$3I34. Pax- I in the undulated (un) mutation has a glycineserine exchange in a conserved portion of the paired domain. A comparison of the DNA-binding affinities of Pax-l and the mutant Pux- I/un-encodtz protein demon-
strated a marked decrease in the DNA-binding affinity of the Pax-l/un protein and an alteration in the specificity of the DNA-binding sites. The PaxZ/m mutation involves a change in the functional properties of the gene-encoded product rather than a complete deletion of the gene product. THOMAS KR, MUS~I IS, NEI!MANN PE, CAPECCHI MR: Swayirtg is a Mutant Allele of the Proto-Oncogene Wnt-I. Cell 1!391, 67~969-976. The recessive neurological mutation swaying has the same phenotype as the mice homozygous for the targeted Wnt-1 allele. Analysis of the Writ-I/SW mutation with the Writ- l/neo allele further established the allelic nature of these mutations. Molecular analysis of the SW mutation identified a frame-shift mutation (GGGG to GGG). DECHIARA TM, ROBERTSON EJ, EF~TRAT~ADIS A Parental Imprinting of the Mouse Insulin-like Growth Factor II Gene. Cell 1991, t&3+-859. Targetted disruption of the insulin-like growth factor-2 &/2) gene in embryonic stem cells is recovered into the germline by means of the use of blastocyst injection chimeras. Transmission of mutated I, through the male rest&s in growth-deficient progeny, while transmission through the female does not produce an altered phenotype. The results indicate that &f2 is parentally imprinted and that active 1, is only transmitted through the male. An overview of the developmental genetics in mammals selected by Salome Gluecksohn-Waelsch KEITH AD, BERNSTEIN A Molecular Basis of Mouse Developmental Mutants. Genes Dee 191, 5311~1123. Provides an essential introduction to previous studies of the dmelopmental genetics of cell type-specific mu tations, which are currently at the center of successful molecular analysis, and the identification of growth factors and signal transduction systems as targets of the mutant effects. BLAU HM, BALTIMC)~ D: Differentiation Requires Continuous Regulation. J Cell &ol, 1991, 112:781-783. A short but excellent treatise of the role of regulatoq genes in development.
@ 1992 Current Biology