Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis

Journal of Dermatological Science

Volumn 56, Issue 3, 2009, Pages 205-207

  Shimomura, Yutaka ^a   Ito, Masaaki ^b   Christiano, Angela M ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b NIIGATA UNIVERSITY   (Japan)

Author keywords

Hypotrichosis; LIPH; LPA; P2RY5; Woolly hair

Indexed keywords

ADENINE; CYTOSINE; G PROTEIN COUPLED RECEPTOR; GENOMIC DNA; PHOSPHOLIPASE A1; TYROSINE;

AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DNA EXTRACTION; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAIR GROWTH; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOTRICHOSIS; INTRON; JAPANESE; LETTER; MALE; MICROSATELLITE MARKER; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY;

AMINO ACID SEQUENCE; HAIR FOLLICLE; HUMANS; HYPOTRICHOSIS; JAPAN; LIPASE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, PURINERGIC P2; SEQUENCE ALIGNMENT;

EID: 70449518954     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2009.08.005     Document Type: Letter

References (10)

1. Kazantseva A., Goltsov A., Zinchenko R., Grigorenko A.P., Abrukova A.V., Moliaka Y.K., et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science 314 (2006) 982-985
2. Shimomura Y., Wajid M., Ishii Y., Shapiro L., Petukhova L., Gordon D., et al. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet 40 (2008) 335-339
3. Shimomura Y., Wajid M., Petukhova L., Shapiro L., and Christiano A.M. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 129 (2009) 622-628
4. Sonoda H., Aoki J., Hiramatsu T., Ishida M., Bandoh K., Nagai Y., et al. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. J Biol Chem 277 (2002) 34254-34263
5. Yanagida K., Masago K., Nakanishi H., Kihara Y., Hamano F., Tajima Y., et al. Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6. J Biol Chem 284 (2009) 17731-17741
6. Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, et al. In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol; in press.
7. Ali G., Chishti M.S., Raza S.I., John P., and Ahmad W. A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. Hum Genet 121 (2007) 319-325
8. Naz G., Khan B., Ali G., Azeem Z., Wali A., Ansar M., et al. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). J Dermatol Sci 54 (2009) 12-16
9. Petukhova L., Shimomura Y., Wajid M., Gorroochurn P., Hodge S.E., and Christiano A.M. The effect of inbreeding on the distribution of compound heterozygotes: a lesson from lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered 68 (2009) 117-130
10. Shimomura Y., Wajid M., Zlotogorski A., Lee Y.J., Rice R.H., and Christiano A.M. Founder mutations in the lipase H gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 129 (2009) 1927-1934