메뉴 건너뛰기




Volumn 128, Issue 2, 2010, Pages 213-220

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 7P; CHROMOSOME 7P21; CHROMOSOME 7P22; EYEBROW; EYELASH; GENE MAPPING; GENETIC LINKAGE; GENETIC SCREENING; HAIR LOSS; HUMAN; HUMAN CHROMOSOME; HYPOTRICHOSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PAKISTAN; PRIORITY JOURNAL; ASIAN; CHROMOSOME; CHROMOSOME 3; CHROMOSOME MAP; CHROMOSOME STRUCTURE; CONSANGUINITY; GENE; GENETICS; HAIR DISEASE; NUCLEOTIDE SEQUENCE; PATHOLOGY;

EID: 77955293300     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0847-y     Document Type: Article
Times cited : (13)

References (46)
  • 1
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • 10.1038/ng786 1:CAS:528:DC%2BD38XivVGjtg%3D%3D 11731797
    • GR Abecasis SS Cherny WO Cookson LR Cardon 2002 Merlin-rapid analysis of dense genetic maps using sparse gene flow trees Nat Genet 30 97 101 10.1038/ng786 1:CAS:528:DC%2BD38XivVGjtg%3D%3D 11731797
    • (2002) Nat Genet , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 3
    • 34147144132 scopus 로고    scopus 로고
    • A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
    • 10.1007/s00439-007-0344-0 1:CAS:528:DC%2BD2sXjvVOgtb4%3D 17333281
    • G Ali MS Chishti SI Raza P John W Ahmad 2007 A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis Hum Genet 121 319 325 10.1007/s00439-007-0344-0 1:CAS:528:DC%2BD2sXjvVOgtb4%3D 17333281
    • (2007) Hum Genet , vol.121 , pp. 319-325
    • Ali, G.1    Chishti, M.S.2    Raza, S.I.3    John, P.4    Ahmad, W.5
  • 4
    • 8744284161 scopus 로고    scopus 로고
    • A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3
    • 10.1136/jmg.2004.019729 1:CAS:528:DC%2BD2cXhtFSjur%2FF 15520410
    • M Aslam MH Chahrour A Razzaq S Haque K Yan SM Leal W Ahmad 2004 A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3 J Med Genet 41 849 852 10.1136/jmg.2004.019729 1:CAS:528:DC%2BD2cXhtFSjur%2FF 15520410
    • (2004) J Med Genet , vol.41 , pp. 849-852
    • Aslam, M.1    Chahrour, M.H.2    Razzaq, A.3    Haque, S.4    Yan, K.5    Leal, S.M.6    Ahmad, W.7
  • 5
    • 70350492104 scopus 로고    scopus 로고
    • A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
    • 10.1016/j.ajhg.2009.08.015 1:CAS:528:DC%2BD1MXhsFWht7bM 19765682
    • M Ayub S Basit M Jelani F Ur Rehman M Iqbal M Yasinzai W Ahmad 2009 A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles Am J Hum Genet 85 515 520 10.1016/j.ajhg.2009.08.015 1:CAS:528:DC%2BD1MXhsFWht7bM 19765682
    • (2009) Am J Hum Genet , vol.85 , pp. 515-520
    • Ayub, M.1    Basit, S.2    Jelani, M.3    Ur Rehman, F.4    Iqbal, M.5    Yasinzai, M.6    Ahmad, W.7
  • 7
    • 58149327059 scopus 로고    scopus 로고
    • A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
    • 10.1186/1471-2350-9-102 19038017
    • S Basit SK Naqvi N Wasif G Ali M Ansar W Ahmad 2008 A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family BMC Med Genet 9 102 10.1186/1471-2350-9-102 19038017
    • (2008) BMC Med Genet , vol.9 , pp. 102
    • Basit, S.1    Naqvi, S.K.2    Wasif, N.3    Ali, G.4    Ansar, M.5    Ahmad, W.6
  • 8
    • 0034123513 scopus 로고    scopus 로고
    • An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family
    • 10.1038/sj.ejhg.5200506 1:CAS:528:DC%2BD3cXltlOitr4%3D 10878665
    • A Baumer S Belli RM Trüeb A Schinzel 2000 An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family Eur J Hum Genet 8 443 448 10.1038/sj.ejhg.5200506 1:CAS:528: DC%2BD3cXltlOitr4%3D 10878665
    • (2000) Eur J Hum Genet , vol.8 , pp. 443-448
    • Baumer, A.1    Belli, S.2    Trüeb, R.M.3    Schinzel, A.4
  • 11
    • 72549102913 scopus 로고    scopus 로고
    • Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis
    • 10.1111/j.1365-2230.2009.03644.x
    • S Düzenli S Redler M Müller M Polat D Dogruer SM Pasternack RC Betz 2009 Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis Clin Exp Dermatol 34 953 956 10.1111/j.1365-2230. 2009.03644.x
    • (2009) Clin Exp Dermatol , vol.34 , pp. 953-956
    • Düzenli, S.1    Redler, S.2    Müller, M.3    Polat, M.4    Dogruer, D.5    Pasternack, S.M.6    Betz, R.C.7
  • 13
    • 65249111020 scopus 로고    scopus 로고
    • Actin dynamics and functions in the interphase nucleus: Moving toward an understanding of nuclear polymeric actin
    • 10.1139/O08-133 1:CAS:528:DC%2BD1MXit1ansrk%3D 19234542
    • RS Gieni MJ Hendzel 2009 Actin dynamics and functions in the interphase nucleus: moving toward an understanding of nuclear polymeric actin Biochem Cell Biol 87 283 306 10.1139/O08-133 1:CAS:528:DC%2BD1MXit1ansrk%3D 19234542
    • (2009) Biochem Cell Biol , vol.87 , pp. 283-306
    • Gieni, R.S.1    Hendzel, M.J.2
  • 14
    • 0032775933 scopus 로고    scopus 로고
    • Involvement of a novel Tnf receptor homologue in hair follicle induction
    • 10.1038/11943 1:CAS:528:DyaK1MXltVSgsrs%3D 10431242
    • DJ Headon PA Overbeek 1999 Involvement of a novel Tnf receptor homologue in hair follicle induction Nat Genet 22 370 374 10.1038/11943 1:CAS:528:DyaK1MXltVSgsrs%3D 10431242
    • (1999) Nat Genet , vol.22 , pp. 370-374
    • Headon, D.J.1    Overbeek, P.A.2
  • 15
    • 70349798393 scopus 로고    scopus 로고
    • Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair
    • 10.1016/j.jaad.2009.04.020 1:CAS:528:DC%2BD1MXhsVertbfI
    • L Horev A Tosti I Rosen K Hershko C Vincenzi K Nanova A Mali T Potikha A Zlotogorski 2009 Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair Am Acad Dermatol 61 813 818 10.1016/j.jaad.2009.04.020 1:CAS:528:DC%2BD1MXhsVertbfI
    • (2009) Am Acad Dermatol , vol.61 , pp. 813-818
    • Horev, L.1    Tosti, A.2    Rosen, I.3    Hershko, K.4    Vincenzi, C.5    Nanova, K.6    Mali, A.7    Potikha, T.8    Zlotogorski, A.9
  • 16
    • 47149102931 scopus 로고    scopus 로고
    • A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
    • 10.1111/j.1399-0004.2008.01011.x 1:CAS:528:DC%2BD1cXhsVyms7rL 18445047
    • M Jelani N Wasif G Ali MS Chishti W Ahmad 2008 A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) Clin Genet 74 184 188 10.1111/j.1399-0004.2008.01011.x 1:CAS:528:DC%2BD1cXhsVyms7rL 18445047
    • (2008) Clin Genet , vol.74 , pp. 184-188
    • Jelani, M.1    Wasif, N.2    Ali, G.3    Chishti, M.S.4    Ahmad, W.5
  • 17
    • 29244469662 scopus 로고    scopus 로고
    • Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3
    • 10.1007/s00439-005-0086-9 1:CAS:528:DC%2BD2MXhtlajsrrE 16273389
    • P John G Ali MS Chishti SM Naqvi SM Leal W Ahmad 2006 Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3 Hum Genet 118 665 667 10.1007/s00439-005-0086-9 1:CAS:528:DC%2BD2MXhtlajsrrE 16273389
    • (2006) Hum Genet , vol.118 , pp. 665-667
    • John, P.1    Ali, G.2    Chishti, M.S.3    Naqvi, S.M.4    Leal, S.M.5    Ahmad, W.6
  • 18
    • 76349119255 scopus 로고    scopus 로고
    • Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families
    • 10.2340/00015555-0766 1:CAS:528:DC%2BC3cXjvFGjs7Y%3D 20107739
    • UE Kalsoom R Habib B Khan G Ali N Ali M Ansar W Ahmad 2010 Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families Acta Derm Venereol 90 93 94 10.2340/00015555-0766 1:CAS:528: DC%2BC3cXjvFGjs7Y%3D 20107739
    • (2010) Acta Derm Venereol , vol.90 , pp. 93-94
    • Kalsoom, U.E.1    Habib, R.2    Khan, B.3    Ali, G.4    Ali, N.5    Ansar, M.6    Ahmad, W.7
  • 22
    • 33344475964 scopus 로고    scopus 로고
    • Activation of transcriptional activities of AP1 and SRE by a novel zinc finger protein ZNF445
    • 10.1016/j.gene.2005.09.023 1:CAS:528:DC%2BD28XhsFGjtbo%3D 16368201
    • KT Luo J Yuan YX Shan J Li M Xu YH Cui WW Tang B Wan NL Zhang YM Wu L Yu 2006 Activation of transcriptional activities of AP1 and SRE by a novel zinc finger protein ZNF445 Gene 367 89 100 10.1016/j.gene.2005.09.023 1:CAS:528:DC%2BD28XhsFGjtbo%3D 16368201
    • (2006) Gene , vol.367 , pp. 89-100
    • Luo, K.T.1    Yuan, J.2    Shan, Y.X.3    Li, J.4    Xu, M.5    Cui, Y.H.6    Tang, W.W.7    Wan, B.8    Zhang, N.L.9    Wu, Y.M.10    Yu, L.11
  • 24
    • 0032811085 scopus 로고    scopus 로고
    • Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
    • 10.1038/11937 1:CAS:528:DyaK1MXltVShu7o%3D 10431241
    • AW Monreal BM Ferguson DJ Headon SL Street PA Overbeek J Zonana 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia Nat Genet 22 366 369 10.1038/11937 1:CAS:528:DyaK1MXltVShu7o%3D 10431241
    • (1999) Nat Genet , vol.22 , pp. 366-369
    • Monreal, A.W.1    Ferguson, B.M.2    Headon, D.J.3    Street, S.L.4    Overbeek, P.A.5    Zonana, J.6
  • 25
    • 0027515373 scopus 로고
    • Molecular characterization of a peripheral receptor for cannabinoids
    • 10.1038/365061a0 1:CAS:528:DyaK3sXmsVWiurk%3D 7689702
    • S Munro KL Thomas M Abu-Shaar 1993 Molecular characterization of a peripheral receptor for cannabinoids Nature 365 61 65 10.1038/365061a0 1:CAS:528:DyaK3sXmsVWiurk%3D 7689702
    • (1993) Nature , vol.365 , pp. 61-65
    • Munro, S.1    Thomas, K.L.2    Abu-Shaar, M.3
  • 26
    • 60749087564 scopus 로고    scopus 로고
    • Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)
    • 10.1016/j.jdermsci.2008.12.001 1:CAS:528:DC%2BD1MXisFSktLc%3D 19167195
    • G Naz B Khan G Ali Z Azeem A Wali M Ansar W Ahmad 2009 Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2) J Dermatol Sci 54 12 16 10.1016/j.jdermsci.2008.12.001 1:CAS:528:DC%2BD1MXisFSktLc%3D 19167195
    • (2009) J Dermatol Sci , vol.54 , pp. 12-16
    • Naz, G.1    Khan, B.2    Ali, G.3    Azeem, Z.4    Wali, A.5    Ansar, M.6    Ahmad, W.7
  • 27
    • 77952093571 scopus 로고    scopus 로고
    • Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23-22.3
    • 10.1007/s00439-009-0784-9 1:CAS:528:DC%2BC3cXjtlanurk%3D
    • G Naz G Ali S Kamran-Ul-Hassan Naqvi Z Azeem W Ahmad 2010 Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23-22.3 Hum Genet 127 395 401 10.1007/s00439-009-0784-9 1:CAS:528:DC%2BC3cXjtlanurk%3D
    • (2010) Hum Genet , vol.127 , pp. 395-401
    • Naz, G.1    Ali, G.2    Kamran-Ul-Hassan Naqvi, S.3    Azeem, Z.4    Ahmad, W.5
  • 28
    • 0028000121 scopus 로고
    • New member of the winged-helix protein family disrupted in mouse and rat nude mutations
    • 10.1038/372103a0 1:CAS:528:DyaK2MXitVGhurs%3D 7969402
    • M Nehls D Pfeifer M Schorpp H Hedrich T Boehm 1994 New member of the winged-helix protein family disrupted in mouse and rat nude mutations Nature 372 103 107 10.1038/372103a0 1:CAS:528:DyaK2MXitVGhurs%3D 7969402
    • (1994) Nature , vol.372 , pp. 103-107
    • Nehls, M.1    Pfeifer, D.2    Schorpp, M.3    Hedrich, H.4    Boehm, T.5
  • 30
    • 0032231941 scopus 로고    scopus 로고
    • PedCheck: A program for identification of genotype incompatibilities in linkage analysis
    • 10.1086/301904 9634505
    • JR O'Connell DE Weeks 1998 PedCheck: a program for identification of genotype incompatibilities in linkage analysis Am J Hum Genet 63 259 266 10.1086/301904 9634505
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.R.1    Weeks, D.E.2
  • 32
    • 3042587550 scopus 로고    scopus 로고
    • A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis
    • 10.1111/j.0022-202X.2004.22715.x 15191570
    • MA Rafiq M Ansar S Mahmood S Haque M Faiyaz-ul-Haque SM Leal W Ahmad 2004 A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis J Invest Dermatol 123 247 248 10.1111/j.0022-202X.2004.22715.x 15191570
    • (2004) J Invest Dermatol , vol.123 , pp. 247-248
    • Rafiq, M.A.1    Ansar, M.2    Mahmood, S.3    Haque, S.4    Faiyaz-Ul-Haque, M.5    Leal, S.M.6    Ahmad, W.7
  • 34
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • 1:CAS:528:DyaK1MXmslKqsbo%3D 10547847
    • S Rozen H Skaletsky 2000 Primer3 on the WWW for general users and for biologist programmers Methods Mol Biol 132 365 386 1:CAS:528:DyaK1MXmslKqsbo%3D 10547847
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 35
    • 39749127117 scopus 로고    scopus 로고
    • Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair
    • 10.1038/ng.100 1:CAS:528:DC%2BD1cXisVKhsbk%3D 18297072
    • Y Shimomura M Wajid Y Ishii L Shapiro L Petukhova D Gordon AM Christiano 2008 Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair Nat Genet 40 335 339 10.1038/ng.100 1:CAS:528:DC%2BD1cXisVKhsbk%3D 18297072
    • (2008) Nat Genet , vol.40 , pp. 335-339
    • Shimomura, Y.1    Wajid, M.2    Ishii, Y.3    Shapiro, L.4    Petukhova, L.5    Gordon, D.6    Christiano, A.M.7
  • 37
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
    • 1:STN:280:DyaK283htlOlug%3D%3D 8651310
    • E Sobel K Lange 1996 Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics Am J Hum Genet 58 1323 1337 1:STN:280:DyaK283htlOlug%3D%3D 8651310
    • (1996) Am J Hum Genet , vol.58 , pp. 1323-1337
    • Sobel, E.1    Lange, K.2
  • 41
    • 33747086860 scopus 로고    scopus 로고
    • A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31
    • 10.1111/j.1399-0004.2006.00661.x 1:STN:280:DC%2BD28vpvV2gtg%3D%3D 16922726
    • A Wali P John A Gul K Lee MS Chishti G Ali MJ Hassan SM Leal W Ahmad 2006 A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31 Clin Genet 70 233 239 10.1111/j.1399-0004.2006.00661.x 1:STN:280:DC%2BD28vpvV2gtg%3D%3D 16922726
    • (2006) Clin Genet , vol.70 , pp. 233-239
    • Wali, A.1    John, P.2    Gul, A.3    Lee, K.4    Chishti, M.S.5    Ali, G.6    Hassan, M.J.7    Leal, S.M.8    Ahmad, W.9
  • 42
    • 34447637957 scopus 로고    scopus 로고
    • Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2
    • 10.1111/j.1469-1809.2007.00362.x 1:CAS:528:DC%2BD2sXpvFChu7k%3D 17451405
    • A Wali G Ali P John K Lee MS Chishti SM Leal W Ahmad 2007 Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2 Ann Hum Genet 71 570 577 10.1111/j.1469-1809.2007.00362.x 1:CAS:528:DC%2BD2sXpvFChu7k%3D 17451405
    • (2007) Ann Hum Genet , vol.71 , pp. 570-577
    • Wali, A.1    Ali, G.2    John, P.3    Lee, K.4    Chishti, M.S.5    Leal, S.M.6    Ahmad, W.7
  • 43
    • 34347325192 scopus 로고    scopus 로고
    • Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32
    • 10.1111/j.1399-0004.2007.00818.x 1:STN:280:DC%2BD2sznvVWmtg%3D%3D 17594396
    • A Wali MS Chishti M Ayub M Yasinzai Ali G Kafaitullah P John W Ahmad 2007 Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32 Clin Genet 72 23 29 10.1111/j.1399-0004.2007.00818.x 1:STN:280:DC%2BD2sznvVWmtg%3D%3D 17594396
    • (2007) Clin Genet , vol.72 , pp. 23-29
    • Wali, A.1    Chishti, M.S.2    Ayub, M.3    Yasinzai, M.4    Kafaitullah Ali, G.5    John, P.6    Ahmad, W.7
  • 44
    • 0029062606 scopus 로고
    • Computer programs for multilocus haplotyping of general pedigrees
    • 1:STN:280:DyaK2M3ot1yjsA%3D%3D 7762577
    • DE Weeks E Sobel JR O'Connell K Lange 1995 Computer programs for multilocus haplotyping of general pedigrees Am J Hum Genet 56 1506 1507 1:STN:280:DyaK2M3ot1yjsA%3D%3D 7762577
    • (1995) Am J Hum Genet , vol.56 , pp. 1506-1507
    • Weeks, D.E.1    Sobel, E.2    O'Connell, J.R.3    Lange, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.