JEFFREY INNIS

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability
    Thomas M Williams
    Department of Human Genetics, University of Michigan Ann Arbor, MI, USA
    Nucleic Acids Res 33:4475-84. 2005
  2. pmc A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS Genet 9:e1003967. 2013
  3. ncbi request reprint A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
    Jeffrey W Innis
    Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI, USA
    Hum Mutat 19:573-4. 2002
  4. ncbi request reprint Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
    Jeffrey W Innis
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Hum Mol Genet 13:2841-51. 2004
  5. ncbi request reprint Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome
    Jeffrey W Innis
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Am J Med Genet A 131:77-81. 2004
  6. ncbi request reprint Integrative biology and the developing limb bud
    Jeffrey W Innis
    Department of Human Genetics and Pediatrics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
    Evol Dev 4:378-89. 2002
  7. ncbi request reprint Limb development: molecular dysmorphology is at hand!
    J W Innis
    University of Michigan, Department of Human Genetics, Ann Arbor 48109 0618, USA
    Clin Genet 53:337-48. 1998
  8. pmc A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
    S L Dagenais
    Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 69:420-7. 2001
  9. ncbi request reprint eSAGE: managing and analysing data generated with serial analysis of gene expression (SAGE)
    E H Margulies
    Departments of Human Genetics Pediatrics and Communicable Diseases, University of Michigan Medical School Ann Arbor, Michigan 48109 0618, USA
    Bioinformatics 16:650-1. 2000
  10. ncbi request reprint Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice
    L C Post
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Int J Dev Biol 43:287-94. 1999

Research Grants

  1. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2000
  2. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2001
  3. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2004
  4. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2002
  5. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2003
  6. Genetic Mechanisms of Vertebrate Caudal Limb Field Specification
    JEFFREY INNIS; Fiscal Year: 2007

Collaborators

  • E H Margulies
  • Zhi Chen
  • Peter J Scambler
  • Katarina Lehmann
  • Boris Utsch
  • S L Dagenais
  • P Hedera
  • J G Hall
  • CATHERINE ELIZABETH KEEGAN
  • Julie Douglas
  • M Ludwig
  • William B Dobyns
  • Heiko Reutter
  • Alan L Shanske
  • F Goodman
  • Jessica A Lehoczky
  • Melissa E Williams
  • Thomas M Williams
  • L C Post
  • Colleen D McCabe
  • Deborah A McDermott
  • Vinod K Misra
  • Stephanie Burns Wechsler
  • D P Mortlock
  • WILLIAM LAW
  • Kenneth Galbraith
  • Joe Washburn
  • Kailey M Owens
  • Peedikayil E Thomas
  • Kevin M Patrie
  • Craig N Johnson
  • Margaret L Van Keuren
  • Bryant Gavino
  • Lesil Brihn
  • Kathleen J Millen
  • Joseph H Nadeau
  • Paul Wakenight
  • Galina Gavrilina
  • Elizabeth D Hughes
  • Alexander D Borowsky
  • Thomas L Saunders
  • Lisa M Villarreal
  • Jennifer L Moran
  • Wei Wen Cai
  • David R Beier
  • Salim Aftimos
  • Thomas D Gelehrter
  • Lionel Van Maldergem
  • Michael C Bressan
  • Mary Ella Pierpont
  • Mark C Hannibal
  • Annick Raas-Rothschild
  • Darrel J Waggoner
  • Joseph S Lee
  • William O'Brien
  • Martina Brueckner
  • Robert H Spencer
  • Cornelis Jakobs
  • Gajja S Salomons
  • Craig T Basson
  • Martin G St John-Sutton
  • Matthew Weber
  • David Misek
  • Fred Gilbert
  • Kevin McDonagh
  • Joanne H Heaton
  • Eduard A Struys
  • Jie He
  • Gail E Graham
  • Thomas Glover
  • Rork Kuick
  • Samir Hanash
  • Wendy E Smith
  • A Kuo

Detail Information

Publications33

  1. pmc Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability
    Thomas M Williams
    Department of Human Genetics, University of Michigan Ann Arbor, MI, USA
    Nucleic Acids Res 33:4475-84. 2005
    ....
  2. pmc A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS Genet 9:e1003967. 2013
    ..Thus, the broad range of phenotypes observed in this mutant is secondary to a novel intergenic ETn insertion whose effects include dysregulation of nearby interval gene expression at early stages of development...
  3. ncbi request reprint A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome
    Jeffrey W Innis
    Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, MI, USA
    Hum Mutat 19:573-4. 2002
    ..The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13's DNA-binding properties, resulting in both a loss and a specific gain of function...
  4. ncbi request reprint Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model
    Jeffrey W Innis
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Hum Mol Genet 13:2841-51. 2004
    ..In vitro translation efficiency of the HOXA13(ALA28) protein was normal. Thus, loss of function is secondary to a reduction in the in vivo abundance of the expanded protein likely due to degradation...
  5. ncbi request reprint Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome
    Jeffrey W Innis
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Am J Med Genet A 131:77-81. 2004
    ....
  6. ncbi request reprint Integrative biology and the developing limb bud
    Jeffrey W Innis
    Department of Human Genetics and Pediatrics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
    Evol Dev 4:378-89. 2002
    ....
  7. ncbi request reprint Limb development: molecular dysmorphology is at hand!
    J W Innis
    University of Michigan, Department of Human Genetics, Ann Arbor 48109 0618, USA
    Clin Genet 53:337-48. 1998
    ..With this knowledge, clinical geneticists can now begin to consider molecular mechanisms and pathways when investigating patients with limb malformation syndromes...
  8. pmc A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
    S L Dagenais
    Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 69:420-7. 2001
    ..The data from the present report support the concepts that (1) OHS results from lower levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function in copper efflux...
  9. ncbi request reprint eSAGE: managing and analysing data generated with serial analysis of gene expression (SAGE)
    E H Margulies
    Departments of Human Genetics Pediatrics and Communicable Diseases, University of Michigan Medical School Ann Arbor, Michigan 48109 0618, USA
    Bioinformatics 16:650-1. 2000
    ..eSAGE is a comprehensive set of software tools for managing and analysing data generated with Serial Analysis of Gene Expression (SAGE)...
  10. ncbi request reprint Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice
    L C Post
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Int J Dev Biol 43:287-94. 1999
    ..In addition, at least one target of HOXA13 may be Hoxa11...
  11. ncbi request reprint Mutation of HOXA13 in hand-foot-genital syndrome
    D P Mortlock
    Dept of Human Genetics, Univ of Michigan Medical School, Ann Arbor 48109 0618, USA
    Nat Genet 15:179-80. 1997
    ..The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA...
  12. ncbi request reprint Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein
    L C Post
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 48109, USA
    Dev Biol 217:290-300. 2000
    ..We propose that the expression of HOXA13(Hd) plays a role in the profound failure of digit formation in Hoxa13(Hd/Hd) mice and explains the morphologic differences between these two Hoxa13 alleles...
  13. ncbi request reprint The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation
    D P Mortlock
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 0618, USA
    Nat Genet 13:284-9. 1996
    ..Our results confirm the critical role of AbdB-like Hox genes in the development of the autopod, and add to the spectrum of mutations involving triplet repeats...
  14. ncbi request reprint Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures
    L C Post
    Departments of Human Genetics and Pediatrics, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
    Biol Reprod 61:1402-8. 1999
    ..Our results indicate that infertility in Hypodactyly mutants is related to hypoplasia of the vaginal cavity and cervix in females and deficiency of the os penis in males...
  15. pmc A comparative molecular analysis of developing mouse forelimbs and hindlimbs using serial analysis of gene expression (SAGE)
    E H Margulies
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    Genome Res 11:1686-98. 2001
    ..SAGE data are all available at GEO (http://www.ncbi.nlm.nih.gov/geo/) under accession nos. GSM55 and GSM56, which correspond to the forelimb and hindlimb raw SAGE data.]..
  16. pmc Identification and prevention of a GC content bias in SAGE libraries
    E H Margulies
    Department of Human Genetics, University of Michigan Medical School and Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA
    Nucleic Acids Res 29:E60-0. 2001
    ..In addition to keeping any solution of free DiTags on ice, an analysis of the GC content should be performed before sequencing large numbers of SAGE Tags to be confident that SAGE libraries are free from experimental bias...
  17. pmc BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    Evol Dev 10:421-32. 2008
    ....
  18. ncbi request reprint Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome
    Boris Utsch
    Children Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 143:3161-8. 2007
    ....
  19. ncbi request reprint Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
    Mamm Genome 17:903-13. 2006
    ..We hypothesize that Ppd affects very early steps in the formation of caudal structures including limb and appendage number. The existence of noncaudal anomalies implies the involvement of Ppd in a broad array of cell fate decisions...
  20. ncbi request reprint A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limb
    Melissa E Williams
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Dev Biol 297:493-507. 2006
    ....
  21. ncbi request reprint TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
    Deborah A McDermott
    Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
    Pediatr Res 58:981-6. 2005
    ..Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis...
  22. ncbi request reprint Possible third case of Lin-Gettig syndrome
    Peter Hedera
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Am J Med Genet 110:380-3. 2002
    ..The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity...
  23. ncbi request reprint Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis
    Stephanie Burns Wechsler
    Department of Pediatrics, University of Michigan Health System, Ann Arbor, Michigan, USA
    Clin Dysmorphol 13:63-9. 2004
    ..Our father/daughter pair is the second family reported, supporting a dominant mode of inheritance. Moreover, the very mild phenotype in the father suggests the need for very careful attention to parental examination in such cases...
  24. ncbi request reprint Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability
    Thomas M Williams
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Dev Biol 279:462-80. 2005
    ..Our results suggest that HOX protein-protein interactions without direct HOX DNA-binding may play a larger role in HOX transcriptional regulation than generally assumed, and DNA-binding appears critical for repression...
  25. ncbi request reprint Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction
    Thomas M Williams
    Department of Human Genetics, University of Michigan, Med Sci II 4811, Ann Arbor, MI 48109 0618, USA
    Dev Biol 277:457-71. 2005
    ....
  26. ncbi request reprint Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication
    Jessica A Lehoczky
    Department of Human Genetics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Evol Dev 6:423-30. 2004
    ..The Evx1- and Evx2-like central nervous system expression observed in these mice suggests that the long-range regulatory element(s) for the Hox cluster existed before the cluster duplication...
  27. pmc Expanded HOXA13 polyalanine tracts in a monotreme
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    Evol Dev 10:433-8. 2008
    ..The data support the conclusion that the emergence of expanded polyalanine tracts in proteins occurred very early in the stem lineage that gave rise to mammals, between 162 and 315 Ma...
  28. ncbi request reprint Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features
    Peter Hedera
    Department of Pediatrics, Division of Genetics, University of Michigan, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0618, USA
    Am J Med Genet A 122:257-60. 2003
    ..The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes...
  29. ncbi request reprint Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal
    Catherine E Keegan
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109 0618, USA
    Am J Med Genet A 125:293-8. 2004
    ....
  30. ncbi request reprint A mouse transgene drives embryonic dorsal posterior commissure expression
    Jessica A Lehoczky
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Transgenic Res 16:823-8. 2007
    ..The ability of this BAC to direct posterior commissure expression makes it worthy of further study as a valuable tool in transgenic/targeting experiments...
  31. ncbi request reprint Priming the search for HOX mutations
    Jeffrey W Innis
    Teratology 65:47-9. 2002
  32. pmc A genomic approach to the identification and characterization of HOXA13 functional binding elements
    Colleen D McCabe
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Nucleic Acids Res 33:6782-94. 2005
    ..No change in the general histone acetylation state was observed. Our results support models in which occupation of multiple HOX binding sites is associated with highly activated genes...
  33. ncbi request reprint Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins
    Vinod K Misra
    Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA
    Mol Genet Metab 86:200-5. 2005
    ....

Research Grants6

  1. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2000
    ..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
  2. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2001
    ..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
  3. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2004
    ..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
  4. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2002
    ..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
  5. HOXA13 AMINO-TERMINAL FUNCTIONAL DOMAINS
    JEFFREY INNIS; Fiscal Year: 2003
    ..We will inject these modified ES cells into blastocysts to create chimeric mice, obtain germline transmission of the mutant alleles, and characterize the limb phenotypes associated with these mutations. ..
  6. Genetic Mechanisms of Vertebrate Caudal Limb Field Specification
    JEFFREY INNIS; Fiscal Year: 2007
    ..Public Health: This work will have broad significance to our understanding of embryonic development as well as the basis for very common human birth defects involving caudal structures and limbs. ..